Malignant Epithelioid Mesenchymal Neoplasm with FUS::CREM Gene Fusion Arising in the Tongue: A Case Report Detailing Clinicopathological, Imaging, and Molecular Features.
FUS:CREM
ALK
Malignant Epithelioid Mesenchymal Neoplasm
Synaptophysin
Tongue
Journal
Head and neck pathology
ISSN: 1936-0568
Titre abrégé: Head Neck Pathol
Pays: United States
ID NLM: 101304010
Informations de publication
Date de publication:
05 Aug 2024
05 Aug 2024
Historique:
received:
05
07
2024
accepted:
18
07
2024
medline:
5
8
2024
pubmed:
5
8
2024
entrez:
5
8
2024
Statut:
epublish
Résumé
FUS::CREM fusion is a distinct primary driver in rare neoplasms of the head and neck and other anatomic sites. Herein, we describe the clinicopathological, imaging, and molecular features of a malignant epithelioid mesenchymal neoplasm harboring FUS::CREM fusion, arising in the tongue of a 46-year-old male. Clinically, the patient presented with a left upper neck mass. Imaging revealed a 4.0 cm mass at the left base of tongue. Histologically, the tumor consisted of sheets of loosely cohesive, small round to ovoid cells with moderate cytoplasm, small nuclei with coarse chromatin, frequent nuclear pseudoinclusions, and dense peripheral lymphoplasmacytic and histiocytic infiltrates. Malignant features, including tumor necrosis, perineural invasion, and increased mitotic activity were observed; however, lymphovascular invasion was absent with no evidence metastatic disease in the examined lymph nodes. A comprehensive panel of immunohistochemical stains showed positivity for synaptophysin and ALK, with negative results for all other markers. RNA-based next-generation sequencing using anchored multiplex polymerase chain reaction (PCR) was performed and detected FUS::CREM fusion gene. The patient was treated by excision and postsurgical chemoradiation with no evidence of recurrence after four months. Additional cases supported by comprehensive clinical data collected over an extended period are necessary to precisely characterize epithelioid mesenchymal neoplasms harboring FUS::CREM fusion in the head and neck.
Identifiants
pubmed: 39102073
doi: 10.1007/s12105-024-01681-y
pii: 10.1007/s12105-024-01681-y
doi:
Substances chimiques
RNA-Binding Protein FUS
0
FUS protein, human
0
Oncogene Proteins, Fusion
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
70Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
Références
WHO Classification of Tumours. 5th ed. Soft Tissue and Bone Tumours. (2020) : International Agency for Research on Cancer, Lyon, France
Schwartz JC, Cech TR, Parker RR (2015) Biochemical properties and Biological functions of FET proteins. Annu Rev Biochem 84:355–379
doi: 10.1146/annurev-biochem-060614-034325
pubmed: 25494299
Mirossay L et al (1992) Cyclic amp-responsive gene-transcription in cellular proliferation and transformation. Int J Oncol 1(3):373–385
pubmed: 21584557
Panagopoulos I et al (2004) The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma. Genes Chromosomes Cancer 40(3):218–228
doi: 10.1002/gcc.20037
pubmed: 15139001
Hallor KH et al (2007) Fusion genes in angiomatoid fibrous histiocytoma. Cancer Lett 251(1):158–163
doi: 10.1016/j.canlet.2006.11.014
pubmed: 17188428
Fujimura Y et al (1996) The EWS-ATF-1 gene involved in malignant melanoma of soft parts with t(12;22) chromosome translocation, encodes a constitutive transcriptional activator. Oncogene 12(1):159–167
pubmed: 8552387
Antonescu CR et al (2011) EWSR1-ATF1 fusion is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland. Genes Chromosomes Cancer 50(7):559–570
doi: 10.1002/gcc.20881
pubmed: 21484932
Stockman DL et al (2012) Malignant gastrointestinal neuroectodermal tumor: clinicopathologic, immunohistochemical, ultrastructural, and molecular analysis of 16 cases with a reappraisal of clear cell sarcoma-like tumors of the gastrointestinal tract. Am J Surg Pathol 36(6):857–868
doi: 10.1097/PAS.0b013e31824644ac
pubmed: 22592145
pmcid: 7479544
Kim NR et al (2022) Brain parenchymal angiomatoid fibrous histiocytoma and spinal myxoid mesenchymal tumor with FET: CREB fusion, a spectrum of the same tumor type. Neuropathology 42(4):257–268
doi: 10.1111/neup.12814
pubmed: 35730186
Kerper AL et al (2024) Primary pulmonary Myxoid Sarcoma and thoracic angiomatoid fibrous histiocytoma: two sides of the same Coin? Am J Surg Pathol 48(5):562–569
doi: 10.1097/PAS.0000000000002189
pubmed: 38407279
Acosta AM et al (2023) Inflammatory and nested testicular sex cord tumor: a novel neoplasm with aggressive clinical behavior and frequent EWSR1::ATF1 gene fusions. Am J Surg Pathol 47(4):504–517
doi: 10.1097/PAS.0000000000002022
pubmed: 36791251
Dermawan JK et al (2022) Comprehensive genomic profiling of EWSR1/FUS::CREB translocation-associated tumors uncovers prognostically significant recurrent genetic alterations and methylation-transcriptional correlates. Mod Pathol 35(8):1055–1065
doi: 10.1038/s41379-022-01023-9
pubmed: 35347249
pmcid: 9329182
Mezzacappa FM et al (2024) Potential prognostic determinants for FET::CREB fusion-positive intracranial mesenchymal tumor. Acta Neuropathol Commun 12(1):17
doi: 10.1186/s40478-024-01721-2
pubmed: 38291529
pmcid: 10826246
Zheng Z et al (2014) Anchored multiplex PCR for targeted next-generation sequencing. Nat Med 20(12):1479–1484
doi: 10.1038/nm.3729
pubmed: 25384085
Demetter P et al (2022) FUS::CREM-rearranged malignant epithelioid neoplasm mimicking neuroendocrine neoplasm of unknown primary. Histopathology 80(5):871–873
doi: 10.1111/his.14579
pubmed: 34605068
Agaimy A et al (2022) Intra-abdominal EWSR1/FUS-CREM-rearranged malignant epithelioid neoplasms: two cases of an emerging aggressive entity with emphasis on misleading immunophenotype. Virchows Arch 480(2):481–486
doi: 10.1007/s00428-021-03140-3
pubmed: 34228212
Argani P et al (2020) EWSR1/FUS-CREB fusions define a distinctive malignant epithelioid neoplasm with predilection for mesothelial-lined cavities. Mod Pathol 33(11):2233–2243
doi: 10.1038/s41379-020-0646-5
pubmed: 32770123
pmcid: 7584759
Lee PH et al (2022) Myoepithelial and oral intracranial myxoid mesenchymal tumor-like neoplasms as diagnostic considerations of the ever-expanding extracranial myxocollagenous tumors harboring FET-CREB fusions. Pathol Res Pract 229:153700
doi: 10.1016/j.prp.2021.153700
pubmed: 34929603
Shibayama T et al (2024) Ovarian sex cord tumor harboring FUS::CREM Fusion: an ovarian counterpart of inflammatory and nested testicular sex cord tumor? Am J Surg Pathol 48(6):773–775
doi: 10.1097/PAS.0000000000002180
pubmed: 38223985
Sloan EA et al (2022) Intracranial mesenchymal tumors with FET-CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas. Brain Pathol 32(4):e13037
doi: 10.1111/bpa.13037
pubmed: 34821426
Sun Y et al (2023) Epithelioid mesenchymal neoplasm with FUS::CREM gene fusion in the tongue: report of a rare and challenging diagnosis. Oral Surg Oral Med Oral Pathol Oral Radiol 135(5):e108–e113
doi: 10.1016/j.oooo.2022.12.003
pubmed: 36697296
Ducray SP et al (2019) The transcriptional roles of ALK Fusion Proteins in Tumorigenesis. Cancers (Basel), 11(8)
Brunac AC et al (2020) The combination of radiotherapy and ALK inhibitors is effective in the treatment of intraosseous rhabdomyosarcoma with FUS-TFCP2 fusion transcript. Pediatr Blood Cancer 67(5):e28185
doi: 10.1002/pbc.28185
pubmed: 31965718
Valerio E et al (2023) Intraosseous Spindle Cell/Epithelioid Rhabdomyosarcoma with TFCP2 rearrangement: a recent recognized subtype with partial response to Alectinib. Int J Surg Pathol 31(5):861–865
doi: 10.1177/10668969221140397
pubmed: 36474403