Mesenchymal Tumors of the Mediastinum: An Update on Diagnostic Approach.
Journal
Advances in anatomic pathology
ISSN: 1533-4031
Titre abrégé: Adv Anat Pathol
Pays: United States
ID NLM: 9435676
Informations de publication
Date de publication:
01 Sep 2021
01 Sep 2021
Historique:
pubmed:
30
5
2021
medline:
30
9
2021
entrez:
29
5
2021
Statut:
ppublish
Résumé
Mesenchymal tumors of the mediastinum are a heterogenous group of rare tumors with divergent lineages. Mediastinal mesenchymal tumors are diagnostically challenging due to their diversity and morphologic overlap with nonmesenchymal lesions arising in the mediastinum. Accurate histologic diagnosis is critical for appropriate patient management and prognostication. Many mediastinal mesenchymal tumors affect distinct age groups or occur at specific mediastinal compartments. Neurogenic tumors, liposarcoma, solitary fibrous tumor, and synovial sarcoma are common mesenchymal tumors in the mediastinum. Herein, we provide an update on the diagnostic approach to mediastinal mesenchymal tumors and a review of the histologic features and differential diagnosis of common benign and malignant mesenchymal tumors of the mediastinum.
Identifiants
pubmed: 34050062
doi: 10.1097/PAP.0000000000000306
pii: 00125480-202109000-00006
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
351-381Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors have no funding or conflicts of interest to disclose.
Références
Silverman NA, Sabiston DC Jr. Mediastinal masses. Surg Clin North Am. 1980;60:757–777.
Alaggio R, Coffin CM, Weiss SW, et al. Liposarcomas in young patients: a study of 82 cases occurring in patients younger than 22 years of age. Am J Surg Pathol. 2009;33:645–658.
Ayadi L, Khabir A. Pediatric angiosarcoma of soft tissue: a rare clinicopathologic entity. Arch Pathol Lab Med. 2010;134:481–485.
Shimosato Y, Mukai K, Mastsuno Y Shimosato Y, Mukai K, Mastsuno Y. Anatomy and anatomic compartments of the mediastinum. AFIP Atlas of Tumor Pathology, Fascicle 11: Tumors of the Mediastinum, 4th series. Washington, DC: ARP Press; 2010:1–16.
Carter BW, Benveniste MF, Madan R, et al. ITMIG classification of mediastinal compartments and multidisciplinary approach to mediastinal masses. Radiographics. 2017;37:413–436.
Mito JK, Mitra D, Doyle LA. Radiation-associated sarcomas: an update on clinical, histologic, and molecular features. Surg Pathol Clin. 2019;12:139–148.
Widemann BC. Current status of sporadic and neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. Curr Oncol Rep. 2009;11:322–328.
Whitten CR, Khan S, Munneke GJ, et al. A diagnostic approach to mediastinal abnormalities. Radiographics. 2007;27:657–671.
Chahal A, Manapragada PP, Singh SP, et al. Primary intrathoracic sarcomas: a review of cross-sectional imaging and pathology. J Comput Assist Tomogr. 2020;44:821–832.
Thway K, Jordan S, Fisher C, et al. Updates in the approach to intrathoracic sarcomas. Histopathology. 2015;67:755–770.
Montgomery E Westra WH, Hruban RH, Phelps TH, Isacson C. Soft tissue, nerves, and muscle. Surgical Pathology Dissection: An Illustrated Guide, 2nd ed. New York, NY: Springer; 2003:120–123.
Hornick JL. Subclassification of pleomorphic sarcomas: how and why should we care? Ann Diagn Pathol. 2018;37:118–124.
Goldblum JR, Folpe AL, Weiss SW Goldblum JR, Folpe AL, Weiss SW. Approach to the diagnosis of soft tissue tumors. Enzinger and Weiss’s Soft Tissue Tumors, 7th ed. Philadelphia, PA: Elsevier; 2020:121–128.
Samaratunga H, Delahunt B, Srigley JR, et al. Granular necrosis: a distinctive form of cell death in malignant tumours. Pathology. 2020;52:507–514.
Trojani M, Contesso G, Coindre JM, et al. Soft-tissue sarcomas of adults; study of pathological prognostic variables and definition of histopathological grading system. Int J Cancer. 1984;33:37–42.
Raut CP, Maki RG, Baldini EH, et al. American Joint Committee on Cancer Editorial Board. Soft tissue sarcoma of the abdomen and thoracic visceral organs. AJCC Caner Staging Manual, 8th ed. Chicago, IL: Springer Nature; 2017:517–521.
Hornick JL. Novel uses of immunohistochemistry in the diagnosis and classification of soft tissue tumors. Mod Pathol. 2014;27(suppl 1):S47–S63.
Schaefer IM, Fletcher CDM. Recent advances in the diagnosis of soft tissue tumours. Pathology. 2018;50:37–48.
Hornick JL. Limited biopsies of soft tissue tumors: the contemporary role of immunohistochemistry and molecular diagnostics. Mod Pathol. 2019;32(suppl 1):27–37.
Wang WL, Lazar AJ Hornick JL. Applications of molecular testing to differential diagnosis. Practical Soft Tissue Pathology: A Diagnostic Approach, 2nd ed. Philadelphia, PA: Elsevier; 2019:513–551.
Borden EC, Baker LH, Bell RS, et al. Soft tissue sarcomas of adults: state of the translational science. Clin Cancer Res. 2003;9:1941–1956.
Lahat G, Lazar A, Lev D. Sarcoma epidemiology and etiology: potential environmental and genetic factors. Surg Clin North Am. 2008;88:451–481.
Bridge JA. The role of cytogenetics and molecular diagnostics in the diagnosis of soft-tissue tumors. Mod Pathol. 2014;27(suppl 1):S80–S97.
Le Loarer F, Watson S, Pierron G, et al. SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. Nat Genet. 2015;47:1200–1205.
Suster DI. The role of molecular pathology in mediastinal sarcomas. Mediastinum. 2020;4:33.
Rieker RJ Travis WD, Brambilla E, Burke AP, Marx A, Nicholson AG. Thymolipoma. WHO Classification of Tumours of Lung, Pleura, Thymus and Heart, 4th ed. Lyon, France: IARC Press; 2015:289.
Moran CA, Rosado-de-Christenson M, Suster S. Thymolipoma: clinicopathologic review of 33 cases. Mod Pathol. 1995;8:741–744.
Rieker RJ, Schirmacher P, Schnabel PA, et al. A report of nine cases, with emphasis on its association with myasthenia gravis. Surg Today. 2010;40:132–136.
Damadoglu E, Salturk C, Takir HB, et al. Mediastinal thymolipoma: an analysis of 10 cases. Respirology. 2007;12:924–927.
Huang CS, Li WY, Lee PC, et al. Analysis of outcomes following surgical treatment of thymolipomatous myasthenia gravis: comparison with thymomatous and non-thymomatous myasthenia gravis. Interact Cardiovasc Thorac Surg. 2014;18:475–481.
Hudacko R, Aviv H, Langenfeld J, et al. Thymolipoma: clues to pathogenesis revealed by cytogenetics. Ann Diagn Pathol. 2009;13:185–188.
Guimarães MD, Benveniste MF, Bitencourt AG, et al. Thymoma originating in a giant thymolipoma: a rare intrathoracic lesion. Ann Thorac Surg. 2013;96:1083–1085.
Steger C, Steiner HJ, Moser K, et al. A typical thymic carcinoid tumour within a thymolipoma: report of a case and review of combined tumours of the thymus. BMJ Case Rep. 2010;2010:bcr0420102958.
Iseki M, Tsuda N, Kishikawa M, et al. Thymolipoma with striated myoid cells. Histological, immunohistochemical, and ultrastructural study. Am J Surg Pathol. 1990;14:395–398.
Weissferdt A, Moran CA. Lipomatous tumors of the anterior mediastinum with muscle differentiation: a clinicopathological and immunohistochemical study of three cases. Virchows Arch. 2014;464:489–493.
Moran CA, Zeren H, Koss MN. Thymofibrolipoma. A histologic variant of thymolipoma. Arch Pathol Lab Med. 1994;118:281–282.
Sakurai H, Kaji M, Yamazaki K, et al. Intrathoracic lipomas: their clinicopathological behaviors are not as straightforward as expected. Ann Thorac Surg. 2008;86:261–265.
Aldahmashi M, Elmadawy A, Mahdy M, et al. The largest reported intrathoracic lipoma: a case report and current perspectives review. J Cardiothorac Surg. 2019;14:215.
Gombar S, Mitra S, Thapa D, et al. Anesthetic considerations in steroid-induced mediastinal lipomatosis. Anesth Analg. 2004;98:862–864.
Liu S, Bakshi R, Ferzli G. Mediastinal lipoblastoma: a rare entity discovered on physical exam. BMJ Case Rep. 2018;2018:bcr2018226393.
Amra NK, Amr SS. Mediastinal lipoblastomatosis: report of a case with complex karyotype and review of the literature. Pediatr Dev Pathol. 2009;12:469–474.
Barbetakis N, Asteriou C, Stefanidis A, et al. Mediastinal hibernoma presenting with hoarseness. Interact Cardiovasc Thorac Surg. 2011;12:845–846.
Choi JY, Goo JM, Chung MJ, et al. Angiolipoma of the posterior mediastinum with extension into the spinal canal: a case report. Korean J Radiol. 2000;1:212–214.
Lim YC. Mediastinal chondrolipoma. Am J Surg Pathol. 1980;4:407–409.
Oaks J, Margolis DJ. Spindle cell lipoma of the mediastinum: a differential consideration for liposarcoma. J Thorac Imaging. 2007;22:355–357.
Strimlan CV, Khasnabis S. Primary mediastinal myelolipoma. Cleve Clin J Med. 1993;60:69–71.
Mariño-Enriquez A, Nascimento AF, Ligon AH, et al. Atypical spindle cell lipomatous tumor: clinicopathologic characterization of 232 cases demonstrating a morphologic spectrum. Am J Surg Pathol. 2017;41:234–244.
Creytens D, Mariño-Enriquez A The WHO Classification of Tumours Editorial Board. Atypical spindle cell/pleomorphic lipomatous tumour. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:34–35.
Binh MB, Sastre-Garau X, Guillou L, et al. MDM2 and CDK4 immunostainings are useful adjuncts in diagnosing well-differentiated and dedifferentiated liposarcoma subtypes: a comparative analysis of 559 soft tissue neoplasms with genetic data. Am J Surg Pathol. 2005;29:1340–1347.
Sirvent N, Coindre JM, Maire G, et al. Detection of MDM2-CDK4 amplification by fluorescence in situ hybridization in 200 paraffin-embedded tumor samples: utility in diagnosing adipocytic lesions and comparison with immunohistochemistry and real-time PCR. Am J Surg Pathol. 2007;31:1476–1489.
Havlícek F, Rosai J. A sarcoma of thymic stroma with features of liposarcoma. Am J Clin Pathol. 1984;82:217–224.
Sbaraglia M, Dei Tos AP, Pedeutour F The WHO Classification of Tumours Editorial Board. Atypical lipomatous tumour/well-differentiated liposarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:36–38.
Klimstra DS, Moran CA, Perino G, et al. Liposarcoma of the anterior mediastinum and thymus. A clinicopathologic study of 28 cases. Am J Surg Pathol. 1995;19:782–791.
Hahn HP, Fletcher CD. Primary mediastinal liposarcoma: clinicopathologic analysis of 24 cases. Am J Surg Pathol. 2007;31:1868–1874.
Boland JM, Colby TV, Folpe AL. Liposarcomas of the mediastinum and thorax: a clinicopathologic and molecular cytogenetic study of 24 cases, emphasizing unusual and diverse histologic features. Am J Surg Pathol. 2012;36:1395–1403.
Ortega P, Suster D, Falconieri G, et al. Liposarcomas of the posterior mediastinum: clinicopathologic study of 18 cases. Mod Pathol. 2015;28:721–731.
Kraus MD, Guillou L, Fletcher CD. Well-differentiated inflammatory liposarcoma: an uncommon and easily overlooked variant of a common sarcoma. Am J Surg Pathol. 1997;21:518–527.
Clay MR, Martinez AP, Weiss SW, et al. MDM2 and CDK4 immunohistochemistry: should it be used in problematic differentiated lipomatous tumors? A new perspective. Am J Surg Pathol. 2016;40:1647–1652.
Creytens D, Ferdinande L. Diagnostic utility of STAT6 immunohistochemistry in the diagnosis of fat-forming solitary fibrous tumors. Appl Immunohistochem Mol Morphol. 2016;24:e12–e13.
Goldblum JR, Folpe AL, Weiss SW Goldblum JR, Folpe AL, Weiss SW. Liposarcoma. Enzinger and Weiss’s soft tissue tumors, 7th ed. Philadelphia, PA: Elsevier; 2020:520–522.
Dei Tos AP, Marino-Enriquez A, Pedeutour F The WHO Classification of Tumours Editorial Board. Dedifferentiated liposarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:36–38.
Evans HL, Khurana KK, Kemp BL, et al. Heterologous elements in the dedifferentiated component of dedifferentiated liposarcoma. Am J Surg Pathol. 1994;18:1150–1157.
Nascimento AG, Kurtin PJ, Guillou L, et al. Dedifferentiated liposarcoma: a report of nine cases with a peculiar neurallike whorling pattern associated with metaplastic bone formation. Am J Surg Pathol. 1998;22:945–955.
Mariño-Enríquez A, Fletcher CD, Dal Cin P, et al. Dedifferentiated liposarcoma with “homologous” lipoblastic (pleomorphic liposarcoma-like) differentiation: clinicopathologic and molecular analysis of a series suggesting revised diagnostic criteria. Am J Surg Pathol. 2010;34:1122–1131.
Makise N, Sekimizu M, Kubo T, et al. Clarifying the distinction between malignant peripheral nerve sheath tumor and dedifferentiated liposarcoma: a critical appraisal of the diagnostic utility of MDM and H3K27me3 status. Am J Surg Pathol. 2018;42:656–664.
Thway K, Nielsen TO The WHO Classification of Tumours Editorial Board. Myxoid liposarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:42–44.
Powers MP, Wang WL, Hernandez VS, et al. Detection of myxoid liposarcoma-associated rearrangement variants including a newly identified breakpoint using an optimized RT-PCR assay. Mod Pathol. 2010;23:1307–1315.
Smith TA, Easley KA, Goldblum JR. Myxoid/round cell liposarcoma of the extremities. A clinicopathologic study of 29 cases with particular attention to extent of round cell liposarcoma. Am J Surg Pathol. 1996;20:171–180.
Moreau LC, Turcotte R, Ferguson P, et al. Canadian Orthopaedic Oncology Society CANOOS). Myxoid/round cell liposarcoma (MRCLS) revisited: an analysis of 418 primarily managed cases. Ann Surg Oncol. 2012;19:1081–1088.
Pedeutour F, Montgomery EA The WHO Classification of Tumours Editorial Board. Pleomorphic liposarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:45–46.
Fritz B, Schubert F, Wrobel G, et al. Microarray-based copy number and expression profiling in dedifferentiated and pleomorphic liposarcoma. Cancer Res. 2002;62:2993–2998.
Cancer Genome Atlas Research Network. Comprehensive and integrated genomic characterization of adult soft tissue sarcomas. Cell. 2017;171:950.e28–965.e28.
Huang HY, Antonescu CR. Epithelioid variant of pleomorphic liposarcoma: a comparative immunohistochemical and ultrastructural analysis of six cases with emphasis on overlapping features with epithelial malignancies. Ultrastruct Pathol. 2002;26:299–308.
Alaggio R, Creytens D The WHO Classification of Tumours Editorial Board. Myxoid pleomorphic liposarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:47–48.
Sinclair TJ, Thorson CM, Alvarez E, et al. Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome. Pediatr Surg Int. 2017;33:631–635.
Hofvander J, Jo VY, Ghanei I, et al. Comprehensive genetic analysis of a paediatric pleomorphic myxoid liposarcoma reveals near-haploidization and loss of the RB1 gene. Histopathology. 2016;69:141–147.
Fritchie KJ, Crago AM, van de Rijn M The WHO Classification of Tumours Editorial Board. Desmoid fibromatosis. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:93–95.
Tam CG, Broome DR, Shannon RL. Desmoid tumor of the anterior mediastinum: CT and radiologic features. J Comput Assist Tomogr. 1994;18:499–501.
Bouchikh M, Arame A, Riquet M, et al. Cardiac failure due to a giant desmoid tumour of the posterior mediastinum. Eur J Cardiothorac Surg. 2013;44:1137–1139.
Lee JH, Jeong JS, Kim SR, et al. Mediastinal desmoid tumor with remarkably rapid growth: a case report. Medicine (Baltimore). 2015;94:e2370.
Xu H, Koo HJ, Lim S, et al. Desmoid-type fibromatosis of the thorax: CT, MRI, and FDG PET characteristics in a large series from a tertiary referral center. Medicine (Baltimore). 2015;94:e1547.
Barker N. The canonical Wnt/beta-catenin signalling pathway. Methods Mol Biol. 2008;468:5–15.
Zreik RT, Fritchie KJ. Morphologic spectrum of desmoid-type fibromatosis. Am J Clin Pathol. 2016;145:332–340.
Bhattacharya B, Dilworth HP, Iacobuzio-Donahue C, et al. Nuclear beta-catenin expression distinguishes deep fibromatosis from other benign and malignant fibroblastic and myofibroblastic lesions. Am J Surg Pathol. 2005;29:653–659.
Andino L, Cagle PT, Murer B, et al. Pleuropulmonary desmoid tumors: immunohistochemical comparison with solitary fibrous tumors and assessment of beta-catenin and cyclin D1 expression. Arch Pathol Lab Med. 2006;130:1503–1509.
Barak S, Wang Z, Miettinen M. Immunoreactivity for calretinin and keratins in desmoid fibromatosis and other myofibroblastic tumors: a diagnostic pitfall. Am J Surg Pathol. 2012;36:1404–1409.
Demicco EG, Fritchie KJ, Han A The WHO Classification of Tumours Editorial Board. Solitary fibrous tumour. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:104–108.
Cardillo G, Carbone L, Carleo F, et al. Solitary fibrous tumors of the pleura: an analysis of 110 patients treated in a single institution. Ann Thorac Surg. 2009;88:1632–1637.
Witkin GB, Rosai J. Solitary fibrous tumor of the mediastinum. A report of 14 cases. Am J Surg Pathol. 1989;13:547–557.
Weidner N. Solitary fibrous tumor of the mediastinum. Ultrastruct Pathol. 1991;15:489–492.
Zhang L, Liu X, Li X, et al. Diagnosis and surgical treatment of mediastinal solitary fibrous tumor. Asia Pac J Clin Oncol. 2017;13:e473–e480.
de Saint Aubain Somerhausen N, Rubin BP, Fletcher CD. Myxoid solitary fibrous tumor: a study of seven cases with emphasis on differential diagnosis. Mod Pathol. 1999;12:463–471.
Guillou L, Gebhard S, Coindre JM. Lipomatous hemangiopericytoma: a fat-containing variant of solitary fibrous tumor? Clinicopathologic, immunohistochemical, and ultrastructural analysis of a series in favor of a unifying concept. Hum Pathol. 2000;31:1108–1115.
Guillou L, Gebhard S, Coindre JM. Orbital and extraorbital giant cell angiofibroma: a giant cell-rich variant of solitary fibrous tumor? Clinicopathologic and immunohistochemical analysis of a series in favor of a unifying concept. Am J Surg Pathol. 2000;24:971–979.
Olson NJ, Linos K. Dedifferentiated solitary fibrous tumor: a concise review. Arch Pathol Lab Med. 2018;142:761–766.
Demicco EG, Wagner MJ, Maki RG, et al. Risk assessment in solitary fibrous tumors: validation and refinement of a risk stratification model. Mod Pathol. 2017;30:1433–1442.
Doyle LA, Vivero M, Fletcher CD, et al. Nuclear expression of STAT6 distinguishes solitary fibrous tumor from histologic mimics. Mod Pathol. 2014;27:390–395.
Doyle LA, Tao D, Mariño-Enríquez A. STAT6 is amplified in a subset of dedifferentiated liposarcoma. Mod Pathol. 2014;27:1231–1237.
Yamamoto H The WHO Classification of Tumours Editorial Board. Inflammatory myofibroblastic tumour. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:109–111.
Makimoto Y, Nabeshima K, Iwasaki H, et al. Inflammatory myofibroblastic tumor of the posterior mediastinum: an older adult case with anaplastic lymphoma kinase abnormalities determined using immunohistochemistry and fluorescence in situ hybridization. Virchows Arch. 2005;446:451–455.
Chen CH, Lin RL, Liu HC, et al. Inflammatory myofibroblastic tumor mimicking anterior mediastinal malignancy. Ann Thorac Surg. 2008;86:1362–1364.
Gorolay V, Jones B. Inflammatory myofibroblastic tumor of mediastinum with esophageal and bronchial invasion: a case report and literature review. Clin Imaging. 2017;43:32–35.
Antonescu CR, Suurmeijer AJ, Zhang L, et al. Molecular characterization of inflammatory myofibroblastic tumors with frequent ALK and ROS1 gene fusions and rare novel RET rearrangement. Am J Surg Pathol. 2015;39:957–967.
Alassiri AH, Ali RH, Shen Y, et al. ETV6-NTRK3 is expressed in a subset of ALK-negative inflammatory myofibroblastic tumors. Am J Surg Pathol. 2016;40:1051–1061.
Gleason BC, Hornick JL. Inflammatory myofibroblastic tumours: where are we now? J Clin Pathol. 2008;61:428–437.
Mariño-Enríquez A, Wang WL, Roy A, et al. Epithelioid inflammatory myofibroblastic sarcoma: an aggressive intra-abdominal variant of inflammatory myofibroblastic tumor with nuclear membrane or perinuclear ALK. Am J Surg Pathol. 2011;35:135–144.
Flieder DB, Suster S, Moran CA. Idiopathic fibroinflammatory (fibrosing/sclerosing) lesions of the mediastinum: a study of 30 cases with emphasis on morphologic heterogeneity. Mod Pathol. 1999;12:257–264.
Cheuk W, Chan JK. IgG4-related sclerosing disease: a critical appraisal of an evolving clinicopathologic entity. Adv Anat Pathol. 2010;17:303–332.
Deshpande V, Zen Y, Chan JK, et al. Consensus statement on the pathology of IgG4-related disease. Mod Pathol. 2012;25:1181–1192.
Jo VY The WHO Classification of Tumours Editorial Board. Deep fibrous histiocytoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:137–138.
Fletcher CD. Benign fibrous histiocytoma of subcutaneous and deep soft tissue: a clinicopathologic analysis of 21 cases. Am J Surg Pathol. 1990;14:801–809.
Gleason BC, Fletcher CD. Deep “benign” fibrous histiocytoma: clinicopathologic analysis of 69 cases of a rare tumor indicating occasional metastatic potential. Am J Surg Pathol. 2008;32:354–362.
Annam V, Krishna AT, Annam V. Deep benign fibrous histiocytoma in the posterior mediastinum. Indian J Cancer. 2010;47:231–233.
Puopolo A, Newmarch W, Casserly B. Deep benign fibrous histiocytoma of the anterior mediastinum mimicking malignancy. Lung. 2017;195:503–506.
Płaszczyca A, Nilsson J, Magnusson L, et al. Fusions involving protein kinase C and membrane-associated proteins in benign fibrous histiocytoma. Int J Biochem Cell Biol. 2014;53:475–481.
Walther C, Hofvander J, Nilsson J, et al. Gene fusion detection in formalin-fixed paraffin-embedded benign fibrous histiocytomas using fluorescence in situ hybridization and RNA sequencing. Lab Invest. 2015;95:1071–1076.
Ströbel P Travis WD, Brambilla E, Burke AP, Marx A, Nicholson AG. Vascular neoplasms. WHO Classification of Tumours of Lung, Pleura, Thymus and Heart, 4th ed. Lyon, France: IARC Press; 2015:292–293.
Hiraiwa H, Hamazaki M, Tsuruta S, et al. Infantile hemangioendothelioma of the thymus with massive pleural effusion and Kasabach-Merritt syndrome: histopathological, flow cytometrical analysis of the tumor. Acta Paediatr Jpn. 1998;40:604–607.
Thway K, Doyle LA The WHO Classification of Tumours Editorial Board. Lymphangioma and lymphangiomatosis. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:154–155.
Oshikiri T, Morikawa T, Jinushi E, et al. Five cases of the lymphangioma of the mediastinum in adult. Ann Thorac Cardiovasc Surg. 2001;7:103–105.
Ikeda J, Morii E, Tomita Y, et al. Mediastinal lymphangiomatosis coexisting with occult thymic carcinoma. Virchows Arch. 2007;450:211–214.
Tamay Z, Saribeyoglu E, Ones U, et al. Diffuse thoracic lymphangiomatosis with disseminated intravascular coagulation in a child. J Pediatr Hematol Oncol. 2005;27:685–687.
Zhou H, Zhong C, Fu Q, et al. Thoracoscopic resection of a huge mediastinal cystic lymphangioma. J Thorac Dis. 2017;9:E887–E889.
Luks VL, Kamitaki N, Vivero MP, et al. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA . J Pediatr. 2015;166:1048–1054.
Miettinen M, Wang ZF. Prox1 transcription factor as a marker for vascular tumors—evaluation of 314 vascular endothelial and 1086 nonvascular tumors. Am J Surg Pathol. 2012;36:351–359.
Hornick JL, Fletcher CD. Intraabdominal cystic lymphangiomas obscured by marked superimposed reactive changes: clinicopathological analysis of a series. Hum Pathol. 2005;36:426–432.
Moran CA, Suster S. Mediastinal hemangiomas: a study of 18 cases with emphasis on the spectrum of morphological features. Hum Pathol. 1995;26:416–421.
Tan C, Alphonso N, Anderson D, et al. Mediastinal haemangiomas in children. Eur J Cardiothorac Surg. 2003;23:1065–1067.
Yun T, Suzuki H, Tagawa T, et al. Cavernous hemangioma of the posterior mediastinum with bony invasion. Gen Thorac Cardiovasc Surg. 2016;64:43–46.
Li SM, Hsu HH, Lee SC, et al. Mediastinal hemangioma presenting with a characteristic feature on dynamic computed tomography images. J Thorac Dis. 2017;9:E412–E415.
McAdams HP, Rosado-de-Christenson ML, Moran CA. Mediastinal hemangioma: radiographic and CT features in 14 patients. Radiology. 1994;193:399–402.
Rubin BP, Deyrup AT, Doyle LA The WHO Classification of Tumours Editorial Board. Epithelioid haemangioendothelioma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:172–175.
Deyrup AT, Tighiouart M, Montag AG, et al. Epithelioid hemangioendothelioma of soft tissue: a proposal for risk stratification based on 49 cases. Am J Surg Pathol. 2008;32:924–927.
Suster S, Moran CA, Koss MN. Epithelioid hemangioendothelioma of the anterior mediastinum. Clinicopathologic, immunohistochemical, and ultrastructural analysis of 12 cases. Am J Surg Pathol. 1994;18:871–881.
Ferretti GR, Chiles C, Woodruff RD, et al. Epithelioid hemangioendothelioma of the superior vena cava: computed tomography demonstration and review of the literature. J Thorac Imaging. 1998;13:45–48.
Dutta R, Pal H, Garg G, et al. An aggressive large epithelioid hemangioendothelioma of the anterior mediastinum in a young woman. Korean J Thorac Cardiovasc Surg. 2018;51:419–422.
Antonescu CR, Le Loarer F, Mosquera JM, et al. Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma. Genes Chromosomes Cancer. 2013;52:775–784.
Lamovec J, Sobel HJ, Zidar A, et al. Epithelioid hemangioendothelioma of the anterior mediastinum with osteoclast-like giant cells. Light microscopic, immunohistochemical, and electron microscopic study. Am J Clin Pathol. 1990;93:813–817.
Doyle LA, Fletcher CD, Hornick JL. Nuclear expression of CAMTA1 distinguishes epithelioid hemangioendothelioma from histologic mimics. Am J Surg Pathol. 2016;40:94–102.
Thway K, Billings SD The WHO Classification of Tumours Editorial Board. Angiosrcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:176–178.
Weissferdt A, Kalhor N, Suster S, et al. Primary angiosarcomas of the anterior mediastinum: a clinicopathologic and immunohistochemical study of 9 cases. Hum Pathol. 2010;41:1711–1717.
Tan YB, Yu XF, Fan JQ, et al. Angiosarcoma originating in the anterior mediastinum: a case report. Medicine (Baltimore). 2018;97:e13459.
Deyrup AT, Miettinen M, North PE, et al. Angiosarcomas arising in the viscera and soft tissue of children and young adults: a clinicopathologic study of 15 cases. Am J Surg Pathol. 2009;33:264–269.
Malagón HD, Valdez AM, Moran CA, et al. Germ cell tumors with sarcomatous components: a clinicopathologic and immunohistochemical study of 46 cases. Am J Surg Pathol. 2007;31:1356–1362.
Contreras AL, Punar M, Tamboli P, et al. Mediastinal germ cell tumors with an angiosarcomatous component: a report of 12 cases. Hum Pathol. 2010;41:832–837.
Al-Abbadi MA, Almasri NM, Al-Quran S, et al. Cytokeratin and epithelial membrane antigen expression in angiosarcomas: an immunohistochemical study of 33 cases. Arch Pathol Lab Med. 2007;131:288–292.
Udager AM, Ishikawa MK, Lucas DR, et al. MYC immunohistochemistry in angiosarcoma and atypical vascular lesions: practical considerations based on a single institutional experience. Pathology. 2016;48:697–704.
Billings SD, Papagopoulos I The WHO Classification of Tumours Editorial Board. Leiomyoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:188–189.
Niwa H, Kondou K, Sekiguchi K. A case of mediastinal leiomyoma associated with cystic change and calcification—a review of 7 cases in Japanese literatures. Nihon Kyobu Geka Gakkai Zasshi. 1988;36:2136–2139.
Shaffer K, Pugatch RD, Sugarbaker DJ. Primary mediastinal leiomyoma. Ann Thorac Surg. 1990;50:301–302.
Ouadnouni Y, Achir A, Bekarsabein S, et al. Primary mediastinal leiomyoma: a case report. Cases J. 2009;2:8555.
Li C, Lin F, Pu Q, et al. Primary mediastinal leiomyoma: a rare case report and literature review. J Thorac Dis. 2018;10:E116–E119.
Hakeem ZA, Rathore SS, Wahid A. Rare mediastinal leiomyoma in a child. Gen Thorac Cardiovasc Surg. 2017;65:415–417.
Dry SM, Fröhling S The WHO Classification of Tumours Editorial Board. Leiomyosarcomama. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:195–197.
Moran CA, Suster S, Perino G, et al. Malignant smooth muscle tumors presenting as mediastinal soft tissue masses. A clinicopathologic study of 10 cases. Cancer. 1994;74:2251–2260.
Yoshida M, Ando S, Naito Y, et al. Mediastinal leiomyosarcoma concurrent with intra-aortic thrombosis. BMJ Case Rep. 2013;2013:bcr2012007527.
Xue X, Liang W, Zhang W. Anterior mediastinal leiomyosarcoma mimicking thymoma: a case report. Medicine (Baltimore). 2018;97:e11132.
Iijima Y, Akiyama H, Nakajima Y, et al. A case of primary mediastinal leiomyosarcoma in which long-term survival was achieved. Ann Thorac Cardiovasc Surg. 2020;26:95–99.
Watanabe R, Schafernak KT, Soares FA The WHO Classification of Tumours Editorial Board. EBV-associated smooth muscle tumour. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:190–192.
Fletcher CDM, Mertens F The WHO Classification of Tumours Editorial Board. Inflammatory leiomyosarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:193–194.
Rubin BP, Fletcher CD. Myxoid leiomyosarcoma of soft tissue, an underrecognized variant. Am J Surg Pathol. 2000;24:927–936.
Yamamoto T, Minami R, Ohbayashi C, et al. Epithelioid leiomyosarcoma of the external deep soft tissue. Arch Pathol Lab Med. 2002;126:468–470.
Oda Y, Miyajima K, Kawaguchi K, et al. Pleomorphic leiomyosarcoma: clinicopathologic and immunohistochemical study with special emphasis on its distinction from ordinary leiomyosarcoma and malignant fibrous histiocytoma. Am J Surg Pathol. 2001;25:1030–1038.
Chen E, O’Connell F, Fletcher CD. Dedifferentiated leiomyosarcoma: clinicopathological analysis of 18 cases. Histopathology. 2011;59:1135–1143.
Iwata J, Fletcher CD. Immunohistochemical detection of cytokeratin and epithelial membrane antigen in leiomyosarcoma: a systematic study of 100 cases. Pathol Int. 2000;50:7–14.
Skapek SX, Ferrari A, Gupta AA, et al. Rhabdomyosarcoma. Nat Rev Dis Primers. 2019;5:1.
Suster S, Moran CA, Koss MN. Rhabdomyosarcomas of the anterior mediastinum: report of four cases unassociated with germ cell, teratomatous, or thymic carcinomatous components. Hum Pathol. 1994;25:349–356.
Okudela K, Nakamura N, Sano J, et al. Thymic carcinosarcoma consisting of squamous cell carcinomatous and embryonal rhabdomyosarcomatous components. Report of a case and review of the literature. Pathol Res Pract. 2001;197:205–210.
Qi Y, Chang B, Pang L, et al. Solid alveolar rhabdomyosarcoma with spindle-shaped cells and epithelial differentiation of the mediastinum in a 68-year-old man: a case report and literature review. J Cancer Res Ther. 2011;7:353–356.
Chow SC, Wong RH, Wan IY, et al. Alveolar rhabdomyosarcoma of the anterior mediastinum with vessel invasion in a 4-month-old boy: a case report. J Med Case Rep. 2015;9:157.
Nishijima Y, Hirato J, Fukuda T. Pleomorphic rhabdomyosarcoma arising in the anterior mediastinum: a case report with cytological features of imprint and liquid-based cytology specimens. Diagn Cytopathol. 2017;45:333–338.
Yamashita K, Hameed M The WHO Classification of Tumours Editorial Board. Extraskeletal osteosarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:224–225.
Catanese J, Dutcher JP, Dorfman HD, et al. Mediastinal osteosarcoma with extension to lungs in a patient treated for Hodgkin's disease. Cancer. 1988;62:2252–2257.
Qian J, Zhang XY, Gu P, et al. Primary thoracic extraskeletal osteosarcoma: a case report and literature review. J Thorac Dis. 2017;9:E1088–E1095.
Orta L, Suprun U, Goldfarb A, et al. Radiation-associated extraskeletal osteosarcoma of the chest wall. Arch Pathol Lab Med. 2006;130:198–200.
Greenwood SM, Meschter SC. Extraskeletal osteogenic sarcoma of the mediastinum. Arch Pathol Lab Med. 1989;113:430–433.
Hishida T, Yoshida J, Nishimura M, et al. Extraskeletal osteosarcoma arising in anterior mediastinum: brief report with a review of the literature. J Thorac Oncol. 2009;4:927–929.
Yamashita K, Kohashi K, Yamada Y, et al. Primary extraskeletal osteosarcoma: a clinicopathological study of 18 cases focusing on MDM2 amplification status. Hum Pathol. 2017;63:63–69.
Machado I, Navarro S, Picci P, et al. The utility of SATB2 immunohistochemical expression in distinguishing between osteosarcomas and their malignant bone tumor mimickers, such as Ewing sarcomas and chondrosarcomas. Pathol Res Pract. 2016;212:811–816.
Winnepenninckx V, De Vos R, Debiec-Rychter M, et al. Calcifying/ossifying synovial sarcoma shows t(X;18) with SSX2 involvement and mitochondrial calcifications. Histopathology. 2001;38:141–145.
Suster S, Moran CA. Malignant cartilaginous tumors of the mediastinum: clinicopathological study of six cases presenting as extraskeletal soft tissue masses. Hum Pathol. 1997;28:588–594.
Ratto GB, Costa R, Alloisio A, et al. Mediastinal chondrosarcoma. Tumori. 2004;90:151–153.
Østergaard ML, Petersen RH, Kalhauge A. A chondrosarcoma in the anterior mediastinum mimicking a thymoma. Acta Radiol Open. 2015;4:2058460115595659.
Fanburg-Smith JC, de Pinieux G, Marc Ladanyi ML The WHO Classification of Tumours Editorial Board. Mesenchymal chondrosarcoma. WHO Classification of Tumours Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:385–387.
Chetty R. Extraskeletal mesenchymal chondrosarcoma of the mediastinum. Histopathology. 1990;17:261–263.
Jeong SS, Choi PJ, Kim DW, et al. Primary extraskeletal mesenchymal chondrosarcoma of the anterior mediastinum. Korean J Pathol. 2013;47:492–494.
Wang L, Motoi T, Khanin R, et al. Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data. Genes Chromosomes Cancer. 2012;51:127–139.
Fanburg-Smith JC, Auerbach A, Marwaha JS, et al. Reappraisal of mesenchymal chondrosarcoma: novel morphologic observations of the hyaline cartilage and endochondral ossification and beta-catenin, Sox9, and osteocalcin immunostaining of 22 cases. Hum Pathol. 2010;41:653–662.
Fanburg-Smith JC, Auerbach A, Marwaha JS, et al. Immunoprofile of mesenchymal chondrosarcoma: aberrant desmin and EMA expression, retention of INI1, and negative estrogen receptor in 22 female-predominant central nervous system and musculoskeletal cases. Ann Diagn Pathol. 2010;14:8–14.
Granter SR, Renshaw AA, Fletcher CD, et al. CD99 reactivity in mesenchymal chondrosarcoma. Hum Pathol. 1996;27:1273–1276.
Tirabosco R, O'Donnell PG, Yamaguchi T The WHO Classification of Tumours Editorial Board. Conventional chordoma. WHO Classification of Tumours Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:451–453.
Suster S, Moran CA. Chordomas of the mediastinum: clinicopathologic, immunohistochemical, and ultrastructural study of six cases presenting as posterior mediastinal masses. Hum Pathol. 1995;26:1354–1362.
Selvaraj A, Wood AJ. Superior mediastinal chordoma presenting as a bilobed paravertebral mass. Eur J Cardiothorac Surg. 2003;23:248–250.
Matsubayashi J, Sato E, Nomura M, et al. A case of paravertebral mediastinal chordoma without bone destruction. Skeletal Radiol. 2012;41:1641–1644.
Huang SM, Chen CC, Chiu PC, et al. Unusual presentation of posterior mediastinal chordoma in a 2-year-old boy. J Pediatr Hematol Oncol. 2003;25:743–746.
Tirabosco R, Hameed M The WHO Classification of Tumours Editorial Board. Dedifferentiated chordoma. WHO Classification of Tumours Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:454–455.
Nielsen GP, Dickson BC, Tirabosco R The WHO Classification of Tumours Editorial Board. Poorly differentiated chordoma. WHO Classification of Tumours Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:456–457.
Tirabosco R, Mangham DC, Rosenberg AE, et al. Brachyury expression in extra-axial skeletal and soft tissue chordomas: a marker that distinguishes chordoma from mixed tumor/myoepithelioma/parachordoma in soft tissue. Am J Surg Pathol. 2008;32:572–580.
Hasselblatt M, Thomas C, Hovestadt V, et al. Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis. Acta Neuropathol. 2016;132:149–151.
Strollo DC, Rosado-de-Christenson ML Spiro SG, Silvestri GA, Agustí A. Disorders of the mediastinum. Clinical Respiratory Medicine, 4th ed. Philadelphia, PA: Elsevier; 2012:846–861.
Perry A, Jo VY The Who Classification of Tumours Editorial Board. Schwannoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:226–231.
Jacoby LB, MacCollin M, Barone R, et al. Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer. 1996;17:45–55.
Oh JE, Ohta T, Satomi K, et al. Alterations in the NF2/LATS1/LATS2/YAP Pathway in Schwannomas. J Neuropathol Exp Neurol. 2015;74:952–959.
Meyer A, Billings SD. What's new in nerve sheath tumors. Virchows Arch. 2020;476:65–80.
Woodruff JM, Selig AM, Crowley K, et al. Schwannoma (neurilemoma) with malignant transformation. A rare, distinctive peripheral nerve tumor. Am J Surg Pathol. 1994;18:882–895.
Adams K, Liu XS, Akhtar I, et al. Pleural-based neuroblastoma-like schwannoma: a case report with cytologic findings and review of literature. Diagn Cytopathol. 2015;43:650–653.
Fanburg-Smith JC, Majidi M, Miettinen M. Keratin expression in schwannoma; a study of 115 retroperitoneal and 22 peripheral schwannomas. Mod Pathol. 2006;19:115–121.
Perry A, Reuss DE, Rodriguez F The Who Classification of Tumours Editorial Board. Neurofibroma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:232–236.
Boland JM, Colby TV, Folpe AL. Intrathoracic peripheral nerve sheath tumors—a clinicopathological study of 75 cases. Hum Pathol. 2015;46:419–425.
Harder A, Wesemann M, Hagel C, et al. Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients. Am J Surg Pathol. 2012;36:702–709.
Stemmer-Rachamimov A, Stewart DR, Viskochil D, et al. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1—a consensus overview. Hum Pathol. 2017;67:1–10.
Schaefer IM, Fletcher CD, Hornick JL. Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics. Mod Pathol. 2016;29:4–13.
Rubin BP, Lazar AJ, Reis-Filho JS The WHO Classification of Tumours Editorial Board. Granular cell tumour. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:240–242.
Machida E, Haniuda M, Eguchi T, et al. Granular cell tumor of the mediastinum. Intern Med. 2003;42:178–181.
Winchester LM, Puckett Y, Greenspon J, et al. Mediastinal granular cell tumor in a 16-year-old boy: a surgical and pathologic perspective. Pediatr Dev Pathol. 2016;19:64–68.
Khansur T, Balducci L, Tavassoli M. Granular cell tumor. Clinical spectrum of the benign and malignant entity. Cancer. 1987;60:220–222.
De Luca G, Luciano A, Benincasa G, et al. Giant malignant granular cell tumor (GCT) of the posterior mediastinum. J Thorac Oncol. 2013;8:1107–1108.
Pareja F, Brandes AH, Basili T, et al. Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors. Nat Commun. 2018;9:3533.
Sekimizu M, Yoshida A, Mitani S, et al. Frequent mutations of genes encoding vacuolar H + -ATPase components in granular cell tumors. Genes Chromosomes Cancer. 2019;58:373–380.
Fanburg-Smith JC, Meis-Kindblom JM, Fante R, et al. Malignant granular cell tumor of soft tissue: diagnostic criteria and clinicopathologic correlation. Am J Surg Pathol. 1998;22:779–794.
Nielsen GP, Chi P The WHO Classification of Tumours Editorial Board. Malignant peripheral nerve sheath tumour. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:254–257.
Koezuka S, Hata Y, Sato F, et al. Malignant peripheral nerve sheath tumor in the anterior mediastinum: a case report. Mol Clin Oncol. 2014;2:987–990.
Sukkarieh F, Van Meerhaeghe A, Delrée P, et al. Tumeur maligne de la gaine d'un nerf périphérique: une lésion rare du médiastin postérieur [Malignant peripheral nerve sheath tumor in the posterior mediastinum]. Rev Pneumol Clin. 2006;62:175–178.
Ralli M, Singh S, Hasija S, et al. Intrathoracic malignant peripheral nerve sheath tumor: histopathological and immunohistochemical features. Iran J Pathol. 2015;10:74–78.
Watson KL, Al Sannaa GA, Kivlin CM, et al. Patterns of recurrence and survival in sporadic, neurofibromatosis type 1-associated, and radiation-associated malignant peripheral nerve sheath tumors. J Neurosurg. 2017;126:319–329.
Zhang M, Wang Y, Jones S, et al. Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors. Nat Genet. 2014;46:1170–1172.
Lee W, Teckie S, Wiesner T, et al. PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors. Nat Genet. 2014;46:1227–1232.
Pemov A, Hansen NF, Sindiri S, et al. Low mutation burden and frequent loss of CDKN2A/B and SMARCA2 , but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas. Neuro Oncol. 2019;21:981–992.
Kang Y, Pekmezci M, Folpe AL, et al. Diagnostic utility of SOX10 to distinguish malignant peripheral nerve sheath tumor from synovial sarcoma, including intraneural synovial sarcoma. Mod Pathol. 2014;27:55–61.
Panse G, Mito JK, Ingram DR, et al. Radiation-associated sarcomas other than malignant peripheral nerve sheath tumours demonstrate loss of histone H3K27 trimethylation. Histopathology. 2021;78:321–326.
Folpe AL, Hameed M The WHO Classification of Tumours Editorial Board. Malignant melanotic nerve sheath tumour. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:258–260.
Carney JA. Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome. Am J Surg Pathol. 1990;14:206–222.
Prieto-Rodríguez M, Camañas-Sanz A, Bas T, et al. Psammomatous melanotic schwannoma localized in the mediastinum: diagnosis by fine-needle aspiration cytology. Diagn Cytopathol. 1998;19:298–302.
Vallat-Decouvelaere AV, Wassef M, Lot G, et al. Spinal melanotic schwannoma: a tumour with poor prognosis. Histopathology. 1999;35:558–566.
Torres-Mora J, Dry S, Li X, et al. Malignant melanotic schwannian tumor: a clinicopathologic, immunohistochemical, and gene expression profiling study of 40 cases, with a proposal for the reclassification of “melanotic schwannoma”. Am J Surg Pathol. 2014;38:94–105.
Li Z, Jia H, Zhang B, et al. The clinical features, treatment, and prognosis of primary mediastinal malignant melanoma: a case report. Medicine (Baltimore). 2017;96:e6436.
Shimada H, Ambros IM, Dehner LP, et al. Terminology and morphologic criteria of neuroblastic tumors: recommendations by the International Neuroblastoma Pathology Committee. Cancer. 1999;86:349–363.
Macchiarini P, Ostertag H. Uncommon primary mediastinal tumours. Lancet Oncol. 2004;5:107–118.
Pavlus JD, Carter BW, Tolley MD, et al. Imaging of thoracic neurogenic tumors. AJR Am J Roentgenol. 2016;207:552–561.
Brock CL, Sharma A, Villada FA, et al. Mediastinal ganglioneuroma with osseous invasion simulating malignant transformation of osteochondroma on CT imaging. Radiol Case Rep. 2020;16:18–21.
Antonescu CR, Scheithauer BW, Woodruff JM Antonescu CR, Scheithauer BW, Woodruff JM. Neurofibroma. AFIP Atlas of Tumor Pathology, Fascicle 19: Tumors of the Peripheral Nervous System, 4th Series. Washington, DC: ARP Press; 2013:211–260.
Adam A, Hochholzer L. Ganglioneuroblastoma of the posterior mediastinum: a clinicopathologic review of 80 cases. Cancer. 1981;47:373–381.
Lee JY, Lee KS, Han J, et al. Spectrum of neurogenic tumors in the thorax: CT and pathologic findings. J Comput Assist Tomogr. 1999;23:399–406.
Sekiguchi N, Noguchi T, Fukushima T, et al. Posterior mediastinal ganglioneuroblastoma in an adolescent: a case report and review. Thorac Cancer. 2020;11:451–455.
Nagashima Y, Miyagi Y, Tanaka Y, et al. Adult ganglioneuroblastoma of the anterior mediastinum. Pathol Res Pract. 1997;193:727–732.
Kashiwabara K, Ikota H, Tanaka S, et al. Thymoma with ganglioneuroblastomatous component: case report. Virchows Arch. 2008;452:319–324.
Davis RD Jr, Oldham HN Jr, Sabiston DC Jr. Primary cysts and neoplasms of the mediastinum: recent changes in clinical presentation, methods of diagnosis, management, and results. Ann Thorac Surg. 1987;44:229–237.
Grosfeld JL, Baehner RL. Neuroblastoma: an analysis of 160 cases. World J Surg. 1980;4:29–37.
Reed JC, Hallet KK, Feigin DS. Neural tumors of the thorax: subject review from the AFIP. Radiology. 1978;126:9–17.
Argani P, Erlandson RA, Rosai J. Thymic neuroblastoma in adults: report of three cases with special emphasis on its association with the syndrome of inappriate secretion of antidiuretic hormone. Am J Clin Pathol. 1997;108:537–543.
Pelosi G, Sonzogni A, Solli P, et al. Differentiating neuroblastoma arising in mediastinal germ cell tumour. Histopathology. 2008;53:350–352.
Bosse KR, Maris JM. Advances in the translational genomics of neuroblastoma: from improving risk stratification and revealing novel biology to identifying actionable genomic alterations. Cancer. 2016;122:20–33.
Brodeur GM. Neuroblastoma: biological insights into a clinical enigma. Nat Rev Cancer. 2003;3:203–216.
Tolbert VP, Coggins GE, Maris JM. Genetic susceptibility to neuroblastoma. Curr Opin Genet Dev. 2017;42:81–90.
Louis CU, Shohet JM. Neuroblastoma: molecular pathogenesis and therapy. Annu Rev Med. 2015;66:49–63.
Bielle F, Fréneaux P, Jeanne-Pasquier C, et al. PHOX2B immunolabeling: a novel tool for the diagnosis of undifferentiated neuroblastomas among childhood small round blue-cell tumors. Am J Surg Pathol. 2012;36:1141–1149.
Moran CA, Suster S, Fishback N, et al. Mediastinal paragangliomas. A clinicopathologic and immunohistochemical study of 16 cases. Cancer. 1993;72:2358–2364.
Lamy AL, Fradet GJ, Luoma A, et al. Anterior and middle mediastinum paraganglioma: complete resection is the treatment of choice. Ann Thorac Surg. 1994;57:249–252.
Moran CA, Albores-Saavedra J, Wenig BM, et al. Pigmented extraadrenal paragangliomas. A clinicopathologic and immunohistochemical study of five cases. Cancer. 1997;79:398–402.
Brown ML, Zayas GE, Abel MD, et al. Mediastinal paragangliomas: the Mayo Clinic experience. Ann Thorac Surg. 2008;86:946–951.
Muñoz-Largacha JA, Glocker RJ, Moalem J, et al. Incidental posterior mediastinal paraganglioma: the safe approach to management, case report. Int J Surg Case Rep. 2017;35:25–28.
Baysal BE, Ferrell RE, Willett-Brozick JE, et al. Mutations in SDHD , a mitochondrial complex II gene, in hereditary paraganglioma. Science. 2000;287:848–851.
Plaza JA, Wakely PE Jr, Moran C, et al. Sclerosing paraganglioma: report of 19 cases of an unusual variant of neuroendocrine tumor that may be mistaken for an aggressive malignant neoplasm. Am J Surg Pathol. 2006;30:7–12.
Weissferdt A, Kalhor N, Liu H, et al. Thymic neuroendocrine tumors (paraganglioma and carcinoid tumors): a comparative immunohistochemical study of 46 cases. Hum Pathol. 2014;45:2463–2470.
Rekhi B, Antonescu CR, Chen G The WHO Classification of Tumours Editorial Board. Angiomatoid fibrous histiocytoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:271–273.
Costa MJ, Weiss SW. Angiomatoid malignant fibrous histiocytoma. A follow-up study of 108 cases with evaluation of possible histologic predictors of outcome. Am J Surg Pathol. 1990;14:1126–1132.
Fanburg-Smith JC, Miettinen M. Angiomatoid “malignant” fibrous histiocytoma: a clinicopathologic study of 158 cases and further exploration of the myoid phenotype. Hum Pathol. 1999;30:1336–1343.
Chen G, Folpe AL, Colby TV, et al. Angiomatoid fibrous histiocytoma: unusual sites and unusual morphology. Mod Pathol. 2011;24:1560–1570.
Asakura S, Tezuka N, Inoue S, et al. Angiomatoid fibrous histiocytoma in mediastinum. Ann Thorac Surg. 2001;72:283–285.
Mangham DC, Williams A, Lalam RK, et al. Angiomatoid fibrous histiocytoma of bone: a calcifying sclerosing variant mimicking osteosarcoma. Am J Surg Pathol. 2010;34:279–285.
Antonescu CR, Dal Cin P, Nafa K, et al. EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer. 2007;46:1051–1060.
Hasegawa T, Seki K, Ono K, et al. Angiomatoid (malignant) fibrous histiocytoma: a peculiar low-grade tumor showing immunophenotypic heterogeneity and ultrastructural variations. Pathol Int. 2000;50:731–738.
Thway K, Fisher C. AFHtoma: the current status of pathology and genetics. Arch Pathol Lab Med. 2015;139:674–682.
Schaefer IM, Fletcher CD. Myxoid variant of so-called angiomatoid “malignant fibrous histiocytoma”: clinicopathologic characterization in a series of 21 cases. Am J Surg Pathol. 2014;38:816–823.
Wu YL, Wu F, Xu CP, et al. Mediastinal follicular dendritic cell sarcoma: a rare, potentially under-recognized, and often misdiagnosed disease. Diagn Pathol. 2019;14:5.
Suurmeijer AJH, Ladanyi M, Nielsen TO The WHO Classification of Tumours Editorial Board. Synovial sarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:290–293.
Terra SBSP, Aesif SW, Maleszewski JJ, et al. Mediastinal synovial sarcoma: clinicopathologic analysis of 21 cases with molecular confirmation. Am J Surg Pathol. 2018;42:761–766.
Suster S, Moran CA. Primary synovial sarcomas of the mediastinum: a clinicopathologic, immunohistochemical, and ultrastructural study of 15 cases. Am J Surg Pathol. 2005;29:569–578.
Hartel PH, Fanburg-Smith JC, Frazier AA, et al. Primary pulmonary and mediastinal synovial sarcoma: a clinicopathologic study of 60 cases and comparison with five prior series. Mod Pathol. 2007;20:760–769.
Bégueret H, Galateau-Salle F, Guillou L, et al. Primary intrathoracic synovial sarcoma: a clinicopathologic study of 40 t(X;18)-positive cases from the French Sarcoma Group and the Mesopath Group. Am J Surg Pathol. 2005;29:339–346.
van de Rijn M, Barr FG, Xiong QB, et al. Poorly differentiated synovial sarcoma: an analysis of clinical, pathologic, and molecular genetic features. Am J Surg Pathol. 1999;23:106–112.
Foo WC, Cruise MW, Wick MR, et al. Immunohistochemical staining for TLE1 distinguishes synovial sarcoma from histologic mimics. Am J Clin Pathol. 2011;135:839–844.
Baranov E, McBride MJ, Bellizzi AM, et al. A novel SS18-SSX fusion-specific antibody for the diagnosis of synovial sarcoma. Am J Surg Pathol. 2020;44:922–933.
Jambhekar N, Ladanyi M The WHO Classification of Tumours Editorial Board. Alveolar soft part sarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:297–299.
Flieder DB, Moran CA, Suster S. Primary alveolar soft-part sarcoma of the mediastinum: a clinicopathological and immunohistochemical study of two cases. Histopathology. 1997;31:469–473.
Kameda Y, Nishii T, Tsuboi M, et al. Alveolar soft-part sarcoma of the mediastinum: a case report. SAGE Open Med Case Rep. 2017;5:2050313X17695473.
Ladanyi M, Lui MY, Antonescu CR, et al. The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL , a novel gene at 17q25. Oncogene. 2001;20:48–57.
Rekhi B, Ingle A, Agarwal M, et al. Alveolar soft part sarcoma 'revisited': clinicopathological review of 47 cases from a tertiary cancer referral centre, including immunohistochemical expression of TFE3 in 22 cases and 21 other tumours. Pathology. 2012;44:11–17.
Tsuji K, Ishikawa Y, Imamura T. Technique for differentiating alveolar soft part sarcoma from other tumors in paraffin-embedded tissue: comparison of immunohistochemistry for TFE3 and CD147 and of reverse transcription polymerase chain reaction for ASPSCR1-TFE3 fusion transcript. Hum Pathol. 2012;43:356–363.
Williams A, Bartle G, Sumathi VP, et al. Detection of ASPL/TFE3 fusion transcripts and the TFE3 antigen in formalin-fixed, paraffin-embedded tissue in a series of 18 cases of alveolar soft part sarcoma: useful diagnostic tools in cases with unusual histological features. Virchows Arch. 2011;458:291–300.
Martignoni G, Gobbo S, Camparo P, et al. Differential expression of cathepsin K in neoplasms harboring TFE3 gene fusions. Mod Pathol. 2011;24:1313–1319.
Chamberlain BK, McClain CM, Gonzalez RS, et al. Alveolar soft part sarcoma and granular cell tumor: an immunohistochemical comparison study. Hum Pathol. 2014;45:1039–1044.
Doyle LA, Hornick JL, Argani P The WHO Classification of Tumours Editorial Board. PEComa. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:312–314.
Flieder DB, Travis WD. Clear cell “sugar” tumor of the lung: association with lymphangioleiomyomatosis and multifocal micronodular pneumocyte hyperplasia in a patient with tuberous sclerosis. Am J Surg Pathol. 1997;21:1242–1247.
Thway K, Fisher C. PEComa: morphology and genetics of a complex tumor family. Ann Diagn Pathol. 2015;19:359–368.
Candaş F, Berber U, Yildizhan A, et al. Anterior mediastinal angiomyolipoma. Ann Thorac Surg. 2013;95:1431–1432.
Liang W, Xu S, Chen F. Malignant perivascular epithelioid cell neoplasm of the mediastinum and the lung: one case report. Medicine (Baltimore). 2015;94:e904.
Pan CC, Chung MY, Ng KF, et al. Constant allelic alteration on chromosome 16p ( TSC2 gene) in perivascular epithelioid cell tumour (PEComa): genetic evidence for the relationship of PEComa with angiomyolipoma. J Pathol. 2008;14:387–393.
Hornick JL, Fletcher CD. PEComa: what do we know so far? Histopathology. 2006;48:75–82.
Folpe AL, Kwiatkowski DJ. Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol. 2010;41:1–15.
Argani P, Aulmann S, Illei PB, et al. A distinctive subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol. 2010;34:1395–1406.
Dei Tos AP, Mertens F, Pillay N The WHO Classification of Tumours Editorial Board. Undifferentiated sarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:318–320.
Fletcher CD. Undifferentiated sarcomas: what to do? And does it matter? A surgical pathology perspective. Ultrastruct Pathol. 2008;32:31–36.
Nakayama T, Numasawa Y, Hashimoto K, et al. Undifferentiated high-grade pleomorphic sarcoma of the mediastinum. Oxf Med Case Rep. 2019;2019:omz086.
Sato M, Inoue S, Arao T, et al. Undifferentiated pleomorphic sarcoma in the anterior mediastinum with a rapidly progressive course: a case report. EXCLI J. 2020;19:1161–1165.
Imai K, Saito H, Minamiya Y, et al. Malignant fibrous histiocytoma originating from the thymus. Gen Thorac Cardiovasc Surg. 2008;56:606–609.
de Álava E, Lessnick SL, Stamenkovic I The WHO Classification of Tumours Editorial Board. Ewing sarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:323–325.
Askin FB, Rosai J, Sibley RK, et al. Malignant small cell tumor of the thoracopulmonary region in childhood: a distinctive clinicopathologic entity of uncertain histogenesis. Cancer. 1979;43:2438–2451.
Zhang WD, Zhao LL, Huang XB, et al. Computed tomography imaging of anterior and middle mediastinal Ewing sarcoma/primitive neuroectodermal tumors. J Thorac Imaging. 2010;25:168–172.
Reali A, Mortellaro G, Allis S, et al. A case of primary mediastinal Ewing's sarcoma / primitive neuroectodermal tumor presenting with initial compression of superior vena cava. Ann Thorac Med. 2013;8:121–123.
Zhang J, Walsh MF, Wu G, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373:2336–2346.
Machado I, Noguera R, Mateos EA, et al. The many faces of atypical Ewing's sarcoma. A true entity mimicking sarcomas, carcinomas and lymphomas. Virchows Arch. 2011;458:281–290.
Bishop JA, Alaggio R, Zhang L, et al. Adamantinoma-like Ewing family tumors of the head and neck: a pitfall in the differential diagnosis of basaloid and myoepithelial carcinomas. Am J Surg Pathol. 2015;39:1267–1274.
Yoshida A, Sekine S, Tsuta K, et al. NKX2.2 is a useful immunohistochemical marker for Ewing sarcoma. Am J Surg Pathol. 2012;36:993–999.
Wang WL, Patel NR, Caragea M, et al. Expression of ERG, an Ets family transcription factor, identifies ERG- rearranged Ewing sarcoma. Mod Pathol. 2012;25:1378–1383.
Yoshida A, Goto K, Kodaira M, et al. CIC -rearranged Sarcomas: a study of 20 cases and comparisons with Ewing sarcomas. Am J Surg Pathol. 2016;40:313–323.
Antonescu CR, Yoshida A The WHO Classification of Tumours Editorial Board. CIC -rearranged sarcoma. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:330–332.
Antonescu CR, Puls F, Tirode F The WHO Classification of Tumours Editorial Board. Sarcoma with BCOR genetic alterations. WHO Classification of Tumours: Soft Tissue and Bone Tumours, 5th ed. Lyon, France: IARC Press; 2020:333–335.
Perret R, Chalabreysse L, Watson S, et al. SMARCA4 -deficient thoracic sarcomas: clinicopathologic study of 30 cases with an emphasis on their nosology and differential diagnoses. Am J Surg Pathol. 2019;43:455–465.
Sauter JL, Graham RP, Larsen BT, et al. SMARCA4 -deficient thoracic sarcoma: a distinctive clinicopathological entity with undifferentiated rhabdoid morphology and aggressive behavior. Mod Pathol. 2017;30:1422–1432.
Yoshida A, Kobayashi E, Kubo T, et al. Clinicopathological and molecular characterization of SMARCA4 -deficient thoracic sarcomas with comparison to potentially related entities. Mod Pathol. 2017;30:797–809.
Kuwamoto S, Matsushita M, Takeda K, et al. SMARCA4 -deficient thoracic sarcoma: report of a case and insights into how to reach the diagnosis using limited samples and resources. Hum Pathol. 2017;70:92–97.
Stewart BD, Kaye F, Machuca T, et al. SMARCA4 -deficient thoracic sarcoma: a case report and review of literature. Int J Surg Pathol. 2020;28:102–108.
Rekhtman N, Montecalvo J, Chang JC, et al. SMARCA4-deficient thoracic sarcomatoid tumors represent primarily smoking-related undifferentiated carcinomas rather than primary thoracic sarcomas. J Thorac Oncol. 2020;15:231–247.
Gopalratnam K, Rodriguez JA, Woodson KA, et al. A case of myxofibrosarcoma in an unusual thoracic location. Case Rep Oncol. 2016;9:39–44.
Maeda E, Ohta S, Watadani T, et al. Imaging findings of thoracic low-grade fibromyxoid sarcoma: report of three cases. Jpn J Radiol. 2009;27:375–380.
Bahrami A, Folpe AL. Adult-type fibrosarcoma: a reevaluation of 163 putative cases diagnosed at a single institution over a 48-year period. Am J Surg Pathol. 2010;34:1504–1513.
Lee JR, Anstadt MP, Khwaja S, et al. Gastrointestinal stromal tumor of the posterior mediastinum. Eur J Cardiothorac Surg. 2002;22:1014–1016.
Wakely PE Jr. Cytopathology of classic type epithelioid sarcoma: a series of 20 cases and review of the literature. J Am Soc Cytopathol. 2020;9:126–136.
Tirabosco R, Lang-Lazdunski L, Diss TC, et al. Clear cell sarcoma of the mediastinum. Ann Diagn Pathol. 2009;13:197–200.
Jin D, Chen M, Wang B, et al. Mediastinal desmoplastic small round cell tumor. Medicine (Baltimore). 2020;99:e22921.
Ng WK, Toe BP, Lau HY. Malignant rhabdoid tumor of the mediastinum: a case report and literature review. J Clin Imaging Sci. 2019;9:7.
Hoseok I, Jeong YJ, Choi KU, et al. Symptomatic posterior mediastinal angioleiomyoma. Yonsei Med J. 2008;49:666–668.
Jang SH, Cho HD, Lee JH, et al. Mediastinal glomus tumor: a case report and literature review. J Pathol Transl Med. 2015;49:520–524.
Fu K, Moran CA, Suster S. Primary mediastinal giant cell tumors: a clinicopathologic and immunohistochemical study of two cases. Ann Diagn Pathol. 2002;6:100–105.
Sidhu JS, Nicolas MM, Taylor W. Mediastinal rhabdomyoma: a case report and review of the literature. Int J Surg Pathol. 2002;10:313–318.
Wallenstein MB, Hole MK, McCarthy C, et al. Mediastinal kaposiform hemangioendothelioma and Kasabach-Merritt phenomenon in a patient with no skin changes and a normal chest CT. Pediatr Hematol Oncol. 2014;31:563–567.
Rodriguez EF, Jones R, Miller D, et al. Neurogenic tumors of the mediastinum. Semin Diagn Pathol. 2020;37:179–186.
Park JY, Park NJ, Kim SP, et al. A soft tissue perineurioma and a hybrid tumor of perineurioma and schwannoma. Korean J Pathol. 2012;46:75–78.
Xu X, Li X, Ren F, et al. Primary chondroma of posterior mediastinum with Horner’s syndrome: a case report. World J Surg Oncol. 2018;16:209.
Bisceglia M, Muscarella LA, Galliani CA, et al. Extraneuraxial hemangioblastoma: clinicopathologic features and review of the literature. Adv Anat Pathol. 2018;25:197–215.
Ye WB, Zhou JP, Xu YQ, et al. Primary mediastinal ependymoma: a case report and literature review. Medicine (Baltimore). 2019;98:e17686.
Falleni M, Roz E, Dessy E, et al. Primary intrathoracic meningioma: histopathological, immunohistochemical and ultrastructural study of two cases. Virchows Arch. 2001;439:196–200.