Oral epithelioid rhabdomyosarcoma: Report of a rare case and literature review of a distinct variant of rhabdomyosarcoma

Rodrigues-Fernandes, Carla Isabelly; Sánchez‐Romero, Celeste; Almeida, Oslei Paes de; Alves, Fábio de Abreu; Carvalho, Elaine Judite de Amorim; Castro, Jurema Freire Lisboa de; Pérez, Danyel Elias da Cruz

doi:10.1016/j.oraloncology.2021.105498

Cited by 2 publications

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“…11,12 Epithelioid rhabdomyosarcoma is a rare, not formally recognized, subtype first described in a single patient in 1989 13 and further characterized in small series of 16, 5, and 7 patients in 2011, 2014, and 2015, respectively. [14][15][16] All other reports of epithelioid rhabdomyosarcomas describe single cases [17][18][19][20][21][22][23][24][25][26] including a case of epithelioid rhabdomyosarcoma occurring as a heterologous component of a urothelial carcinoma of the urinary bladder. 27 Overall, 40 cases of epithelioid rhabdomyosarcoma have been reported in the literature.…”

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confidence: 99%

Rhabdomyosarcoma With Epithelioid Features And NSD3::FOXO1 Fusion: Evidence For Reconsideration Of Previously Reported FOXO1::FGFR1 Fusion

et al. 2022

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Epithelioid rhabdomyosarcoma is a rare rhabdomyosarcoma variant for which no diagnostic recurrent driver genetic events have been identified. Here we report a rapidly progressive and widely metastatic rhabdomyosarcoma with epithelioid features that arose in the thigh of a male infant. Conventional cytogenetics revealed a t(8;13)(p11.2;q14) translocation. Fluorescence in situ hybridization studies showed rearrangement of FOXO1 and amplification of its 3” end, and rearrangement of NSD3 and amplification of its 5` end. Next generation sequencing identified a NSD3::FOXO1 fusion, which is a previously unreported gene fusion. We also review the historic report of a FOXO1::FGFR1 fusion in a solid variant of alveolar rhabdomyosarcoma and propose that NSD3::FOXO1 fusion may have been the more appropriate interpretation of the data presented in that report.

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