Primary lung chordoma: a case report.
Brachyury
FISH
Isochromosome 12p
Lung chordoma
Testicular mixed germ-cell tumor
Journal
Diagnostic pathology
ISSN: 1746-1596
Titre abrégé: Diagn Pathol
Pays: England
ID NLM: 101251558
Informations de publication
Date de publication:
03 Jul 2024
03 Jul 2024
Historique:
received:
03
04
2023
accepted:
26
06
2024
medline:
4
7
2024
pubmed:
4
7
2024
entrez:
3
7
2024
Statut:
epublish
Résumé
Chordoma, a rare malignant tumor arising from notochordal tissue, usually occurs along the spinal axis. Only a few published reports of primary lung chordomas exist. Herein, we present a case of primary lung chordoma and discuss important considerations for diagnosing rare chordomas. We report a case of primary lung chordoma in a 39-year-old male with a history of testicular mixed germ-cell tumor of yolk sac and teratoma. Computed tomography revealed slow-growing solid lesions in the left lower lobe. We performed wedge resection for suspected germ-cell tumor lung metastasis. Histologically, large round or oval cells with eosinophilic cytoplasm were surrounded by large cells with granular, lightly eosinophilic cytoplasm. Tumor cells were physaliphorous. Immunohistochemistry was positive for brachyury, S-100 protein, epithelial membrane antigen, vimentin, and cytokeratin AE1/AE3, suggesting pulmonary chordoma. Re-examination of the testicular mixed germ-cell tumor revealed no notochordal elements. Although some areas were positive for brachyury staining, hematoxylin and eosin (HE) staining did not show morphological features typical of chordoma. Complementary fluorescence in situ hybridization (FISH) of the lung tumor confirmed the absence of isochromosome 12p and 12p amplification. Thus, a final diagnosis of primary lung chordoma was established. In patients with a history of testicular mixed germ cell tumors, comparison of histomorphology using HE and Brachyury staining of lung and testicular tumors, and analyzing isochromosome 12p and 12p amplification in lung tumors using FISH is pivotal for the diagnosis of rare lung chordomas.
Sections du résumé
BACKGROUND
BACKGROUND
Chordoma, a rare malignant tumor arising from notochordal tissue, usually occurs along the spinal axis. Only a few published reports of primary lung chordomas exist. Herein, we present a case of primary lung chordoma and discuss important considerations for diagnosing rare chordomas.
CASE PRESENTATION
METHODS
We report a case of primary lung chordoma in a 39-year-old male with a history of testicular mixed germ-cell tumor of yolk sac and teratoma. Computed tomography revealed slow-growing solid lesions in the left lower lobe. We performed wedge resection for suspected germ-cell tumor lung metastasis. Histologically, large round or oval cells with eosinophilic cytoplasm were surrounded by large cells with granular, lightly eosinophilic cytoplasm. Tumor cells were physaliphorous. Immunohistochemistry was positive for brachyury, S-100 protein, epithelial membrane antigen, vimentin, and cytokeratin AE1/AE3, suggesting pulmonary chordoma. Re-examination of the testicular mixed germ-cell tumor revealed no notochordal elements. Although some areas were positive for brachyury staining, hematoxylin and eosin (HE) staining did not show morphological features typical of chordoma. Complementary fluorescence in situ hybridization (FISH) of the lung tumor confirmed the absence of isochromosome 12p and 12p amplification. Thus, a final diagnosis of primary lung chordoma was established.
CONCLUSIONS
CONCLUSIONS
In patients with a history of testicular mixed germ cell tumors, comparison of histomorphology using HE and Brachyury staining of lung and testicular tumors, and analyzing isochromosome 12p and 12p amplification in lung tumors using FISH is pivotal for the diagnosis of rare lung chordomas.
Identifiants
pubmed: 38961474
doi: 10.1186/s13000-024-01522-0
pii: 10.1186/s13000-024-01522-0
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
91Informations de copyright
© 2024. The Author(s).
Références
Stacchiotti S, Sommer J, Chordoma Global Consensus G. Building a global consensus approach to chordoma: a position paper from the medical and patient community. Lancet Oncol. 2015;16:e71–83.
doi: 10.1016/S1470-2045(14)71190-8
pubmed: 25638683
DiFrancesco LM, Davanzo Castillo CA, Temple WJ. Extra-axial chordoma. Arch Pathol Lab Med. 2006;130:1871–4.
doi: 10.5858/2006-130-1871-EC
pubmed: 17149966
Gulluoglu S, Turksoy O, Kuskucu A, Ture U, Bayrak OF. The molecular aspects of chordoma. Neurosurg Rev. 2016;39:185–96; discussion 96.
doi: 10.1007/s10143-015-0663-x
pubmed: 26363792
Mirra JM, Nelson SD, Della Rocca C, Mertens F. Chordoma. In: Fletcher CDM, Unni KK, Mertens F, editors. Pathology and genetics of tumors of soft tissue and bone World Health Organization classification of tumors. Lyon: IARC Press; 2002. p. 316–7.
Zhou J, Sun J, Bai XH, Huang X, Zou Y, Tan X, et al. Prognostic factors in patients with spinal chordoma: an integrative analysis of 682 patients. Neurosurgery. 2017;81:883.
doi: 10.1093/neuros/nyx081
Strano S, Ouafi L, Baud M, Alifano M. Primary chordoma of the lung. Ann Thorac Surg. 2010;89:302–3.
doi: 10.1016/j.athoracsur.2009.05.043
pubmed: 20103267
Kikuchi Y, Yamaguchi T, Kishi H, Azuhata K, Kimizuka G, Hiroshima K, et al. Pulmonary tumor with notochordal differentiation: report of 2 cases suggestive of benign notochordal cell tumor of extraosseous origin. Am J Surg Pathol. 2011;35:1158–64.
doi: 10.1097/PAS.0b013e318220e085
pubmed: 21716081
Park SY, Kim SR, Choe YH, Lee KY, Park SJ, Lee HB, et al. Extra-axial chordoma presenting as a lung mass. Respiration. 2009;77:219–23.
doi: 10.1159/000134306
pubmed: 18497501
Ohya M, Yoshida K, Shimojo H, Shiina T. Multiple primary chordomas of the lung. Respir Med Case Rep. 2018;25:142–4.
pubmed: 30175034
pmcid: 6115605
Kaufman D, Farias V, Lipton J, Brichkov I. Lung chordoma: a discussion. Ann Thorac Surg. 2022;114:e33–4.
doi: 10.1016/j.athoracsur.2021.09.018
pubmed: 34678279
Ball S, Dash A, Igid HP, Thein KZ, Sharma U, Tijani L. Primary extra-axial chordoma masquerading as lung cancer: case report and review of the literature. Clin Lung Cancer. 2020;21:e560–3.
doi: 10.1016/j.cllc.2020.05.001
pubmed: 32565031
Walcott BP, Nahed BV, Mohyeldin A, Coumans JV, Kahle KT, Ferreira MJ. Chordoma: current concepts, management, and future directions. Lancet Oncol. 2012;13:e69–76.
doi: 10.1016/S1470-2045(11)70337-0
pubmed: 22300861
von Witzleben A, Goerttler LT, Lennerz J, Weissinger S, Kornmann M, Mayer-Steinacker R, et al. In chordoma, metastasis, recurrences, Ki-67 index, and a matrix-poor phenotype are associated with patients’ shorter overall survival. Eur Spine J. 2016;25:4016–24.
doi: 10.1007/s00586-015-4242-1
Abenoza P, Sibley RK. Chordoma: an immunohistologic study. Hum Pathol. 1986;17:744–7.
doi: 10.1016/S0046-8177(86)80185-X
pubmed: 2424820
Yamaguchi T, Imada H, Iida S, Szuhai K. Notochordal tumors: an update on molecular pathology with therapeutic implications. Surg Pathol Clin. 2017;10:637–56.
doi: 10.1016/j.path.2017.04.008
pubmed: 28797506
Tirabosco R, Mangham DC, Rosenberg AE, Vujovic S, Bousdras K, Pizzolitto S, 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;32:572–80.
doi: 10.1097/PAS.0b013e31815b693a
pubmed: 18301055
Pinto F, Carcano FM, da Silva ECA, Vidal DO, Scapulatempo-Neto C, Lopes LF, et al. Brachyury oncogene is a prognostic factor in high-risk testicular germ cell tumors. Andrology. 2018;6:597–604.
doi: 10.1111/andr.12495
pubmed: 29749711
Las Heras F, Pritzker KP, Colgan TJ. Chordoma arising in a mature cystic teratoma of the ovary: a case report. Pathol Res Pract. 2007;203:467–71.
doi: 10.1016/j.prp.2006.12.010
pubmed: 17418959
Freitag CE, Sukov WR, Bryce AH, Berg JV, Vanderbilt CM, Shen W, et al. Assessment of isochromosome 12p and 12p abnormalities in germ cell tumors using fluorescence in situ hybridization, single-nucleotide polymorphism arrays, and next-generation sequencing/mate-pair sequencing. Hum Pathol. 2021;112:20–34.
doi: 10.1016/j.humpath.2021.03.008
pubmed: 33798590
Iczkowski KA. Germ cell neoplasms of the testis: update for 2022. Semin Diagn Pathol. 2023;40:2–21.
doi: 10.1053/j.semdp.2022.07.001
pubmed: 35840444
Ulbright TM, Amin MB, Balzed B, Berney DM, Epstein JI, Guo C, et. al. Germ cell tumors. In: World Health Organization classification of the urinary system and male genital organs. 4th ed. Lyon: World Health Organization; 2016. p. 189–226.
Bergh P, Kindblom LG, Gunterberg B, Remotti F, Ryd W, Meis-Kindblom JM. Prognostic factors in chordoma of the sacrum and mobile spine: a study of 39 patients. Cancer. 2000;88:2122–34.
doi: 10.1002/(SICI)1097-0142(20000501)88:9<2122::AID-CNCR19>3.0.CO;2-1
pubmed: 10813725
McMaster ML, Goldstein AM, Bromley CM, Ishibe N, Parry DM. Chordoma: incidence and survival patterns in the United States, 1973–1995. Cancer Causes Control. 2001;12:1–11.
doi: 10.1023/A:1008947301735
pubmed: 11227920