A A Case Report of a New Emerging Subtype of Rhabdomyosarcoma : Epithelioid and Spindle Cell Variant with Aggressive Behavior
Abstract
Rhabdomyosarcoma is a rare malignant mesenchymal neoplasm characterized by immature skeletal muscle differentiation. Among its various subtypes, the newly emerging epithelioid and spindle cell rhabdomyosarcoma represents a rare and distinct entity with unique histopathological, immunohistochemical, and molecular features. This case report highlights a 21-year-old male patient diagnosed with this rare subtype, emphasizing the pathological findings, differential diagnosis, prognosis, and potential therapeutic implications.
References
WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours [Internet]. Lyon (France): International Agency for Research on Cancer; 2020 [cited 2025 Feb 10]. (WHO classification of tumours series, 5th ed.; vol. 3).
Watson S, Perrin V, Guillemot D, Reynaud S, Coindre JM, Karanian M, et al. Transcriptomic definition of molecular subgroups of small round cell sarcomas. J Pathol. 2018;245:29–40.
Le Loarer F, Cleven AHG, Bouvier C, Castex MP, Romagosa C, Moreau A, et al. A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation. Mod Pathol. 2020;33(3):404–19. Doi:10.1038/s41379-019-0323-8.
Li Y, Li D, Wang J, Tang J. Epithelioid and spindle rhabdomyosarcoma with TFCP2 rearrangement in abdominal wall: a distinctive entity with poor prognosis. Diagn Pathol. 2023;18(1):41. Doi:10.1186/s13000-023-01330-y.
Chrisinger JSA, Wehrli B, Dickson BC, Fasih S, Hirbe AC, Shultz DB, et al. Epithelioid and spindle cell rhabdomyosarcoma with FUS-TFCP2 or EWSR1-TFCP2 fusion: report of two cases. Virchows Arch. 2020;477(5):725–32. Doi:10.1007/s00428-020-02870-0.
Xu B, Suurmeijer AJH, Agaram NP, Zhang L, Antonescu CR. Head and neck rhabdomyosarcoma with TFCP2 fusions and ALK overexpression: a clinicopathological and molecular analysis of 11 cases. Histopathology. 2021;79(3):347–57. Doi:10.1111/his.14323.
Jo VY, Mariño-Enríquez A, Fletcher CD. Epithelioid rhabdomyosarcoma: clinicopathologic analysis of 16 cases of a morphologically distinct variant of rhabdomyosarcoma. Am J Surg Pathol. 2011;35 (10):1523–30. Doi:10.1097/PAS.0b013e31822e0907.
Mosquera JM, Sboner A, Zhang L, Kitabayashi N, Chen CL, Sung YS, et al. Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. Genes Chromosomes Cancer. 2013;52(6):538–50. Doi:10.1002/gcc.22050.
Szuhai K, de Jong D, Leung WY, Fletcher CD, Hogendoorn PC. Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. J Pathol. 2014;232(3):300–7. Doi:10.1002/path.4307.
Dashti NK, Wehrs RN, Thomas BC, Nair A, Davila J, Buckner JC, et al. Spindle cell rhabdomyosarcoma of bone with FUS-TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype. Histopathology. 2018;73(3):514–20. Doi:10.1111/his.13649.
Agaram NP, Zhang L, Sung YS, Cavalcanti MS, Torrence D, Wexler L, et al. Expanding the spectrum of intraosseous rhabdomyosarcoma: correlation between 2 distinct gene fusions and phenotype. Am J Surg Pathol. 2019;43(5):695–702. Doi:10.1097/PAS.0000000000001227.
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