Rhabdomyosarcoma of the skull with EWSR1 fusion and ALK and cytokeratin expression: a case report
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Rhabdomyosarcoma (RMS) comprises of heterogeneous group of neoplasms that occasionally express epithelial markers on immunohistochemistry (IHC). We herein report the case of a patient who developed RMS of the skull with EWSR1 fusion and anaplastic lymphoma kinase (ALK) and cytokeratin expression as cytomorphologic features. A 40-year-old man presented with a mass in his forehead. Surgical resection was performed, during which intraoperative frozen specimens were obtained. Squash cytology showed scattered or clustered spindle and epithelioid cells. IHC revealed that the resected tumor cells were positive for desmin, MyoD1, cytokeratin AE1/AE3, and ALK. Although EWSR1 rearrangement was identified on fluorescence in situ hybridization, ALK, and TFCP2 rearrangement were not noted. Despite providing adjuvant chemoradiation therapy, the patient died of tumor progression 10 months after diagnosis. We emphasize that a subset of RMS can express cytokeratin and show characteristic histomorphology, implying the need for specific molecular examination.
Abstract
Rhabdomyosarcoma (RMS) comprises of heterogeneous group of neoplasms that occasionally express epithelial markers on immunohistochemistry (IHC). We herein report the case of a patient who developed RMS of the skull with EWSR1 fusion and anaplastic lymphoma kinase (ALK) and cytokeratin expression as cytomorphologic features. A 40-year-old man presented with a mass in his forehead. Surgical resection was performed, during which intraoperative frozen specimens were obtained. Squash cytology showed scattered or clustered spindle and epithelioid cells. IHC revealed that the resected tumor cells were positive for desmin, MyoD1, cytokeratin AE1/AE3, and ALK. Although EWSR1 rearrangement was identified on fluorescence in situ hybridization, ALK, and TFCP2 rearrangement were not noted. Despite providing adjuvant chemoradiation therapy, the patient died of tumor progression 10 months after diagnosis. We emphasize that a subset of RMS can express cytokeratin and show characteristic histomorphology, implying the need for specific molecular examination.
참고문헌 (23)
- Sultan I, "Comparing adult and pediatric rhabdomyosarcoma in the surveillance, epidemiology and end results program, 1973 to 2005 : an analysis of 2, 600 patients", J Clin Oncol, 27, pp.3391~3397 (2009)
- Agaram NP, "MYOD1-mutant spindle cell and sclerosing rhabdomyosarcoma : an aggressive subtype irrespective of age. A reappraisal for molecular classification and risk stratification", Mod Pathol, 32, pp.27~36 (2019)
- Mosquera JM, "Recurrent NCOA2 gene rearrangements in congenital", infantile spindle cell rhabdomyosarcoma, 2013, pp.52, 538~550
- Alaggio R, "A molecular study of pediatric spindle and sclerosing rhabdomyosarcoma : identification of novel and recurrent VGLL2-related fusions in infantile cases", Am J Surg Pathol, 40, pp.224~235 (2016)
- Bahrami A, "Aberrant expression of epithelial and neuroendocrine markers in alveolar rhabdomyosarcoma : a potentially serious diagnostic pitfall", Mod Pathol, 21, pp.795~806 (2008)
- Dehner CA, "Fusion-driven spindle cell rhabdomyosarcomas of bone and soft tissue : a clinicopathologic and molecular genetic study of 25 cases", Mod Pathol, 36, pp.100271~ (2023)
- Le Loarer F, "A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation", Mod Pathol, 33, pp.404~419 (2020)
- Radzikowska J, "Rhabdomyosarcoma of the head and neck in children", Contemp Oncol (Pozn), 19, pp.98~107 (2015)
- Kakkar A, "Primary bone tumors of the skull : spectrum of 125 cases, with review of literature", J Neurol Surg B Skull Base, 77, pp.319~325 (2016)
- Pons Escoda A, "Imaging of skull vault tumors in adults", Insights Imaging, 11, pp.23~ (2020)
- Flucke U, "EWSR1: the most common rearranged gene in soft tissue lesions, which also occurs in different bone lesions: an updated review", Diagnostics (Basel), 11, pp.1093~ (2021)
- WHO Classification of Tumours Editorial Board, "WHO classification of tumours series, 5th ed. Vol. 3. Soft tissue and bone tumours" (2020), International Agency for Research on Cancer
- Bridge JA, "Clinical, pathological, and genomic features of EWSR1-PATZ1 fusion sarcoma", Mod Pathol, 32, pp.1593~1604 (2019)
- Wang GY, "EWSR1-NFATC2 translocation-associated sarcoma clinicopathologic findings in a rare aggressive primary bone or soft tissue tumor", Am J Surg Pathol, 43, pp.1112~1122 (2019)
- Kao YC, "EWSR1 fusions with CREB family transcription factors define a novel myxoid mesenchymal tumor with predilection for intracranial location", Am J Surg Pathol, 41, pp.482~490 (2017)
- Argani P, "EWSR1", FUS-CREB fusions define a distinctive malignant epithelioid neoplasm with predilection for mesothelial-lined cavities, 2020, pp.33, 2233~2243
- Watson S, "Transcriptomic definition of molecular subgroups of small round cell sarcomas", J Pathol, 245, pp.29~40 (2018)
- Xu B, "Head and neck rhabdomyosarcoma with TFCP2 fusions and ALK overexpression : a clinicopathological and molecular analysis of 11 cases", Histopathology, 79, pp.347~357 (2021)
- Chrisinger JSA, "Epithelioid and spindle cell rhabdomyosarcoma with FUS-TFCP2 or EWSR1-TFCP2fusion : report of two cases", Virchows Arch, 477, pp.725~732 (2020)
- Schopf J, "Multi-omic and functional analysis for classification and treatment of sarcomas with FUS-TFCP2or EWSR1-TFCP2 fusions", Nat Commun, 15, pp.51~ (2024)
- Michal M, "EWSR1-PATZ1-rearranged sarcoma : a report of nine cases of spindle and round cell neoplasms with predilection for thoracoabdominal soft tissues and frequent expression of neural and skeletal muscle markers", Mod Pathol, 34, pp.770~785 (2021)
- Brunac AC, "The combination of radiotherapy and ALK inhibitors is effective in the treatment of intraosseous rhabdomyosarcoma with FUS-TFCP2 fusion transcript", Pediatr Blood Cancer, 67, pp.e28185~ (2020)
- Valerio E, "Intraosseous spindle cell", epithelioid rhabdomyosarcoma with TFCP2 rearrangement : a recent recognized subtype with partial response to alectinib, 2023, pp.31, 861~865