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

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 c...

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Bibliographic Details
Published in:International journal of surgical pathology 2023-04, Vol.31 (2), p.213-220
Main Authors: Rakheja, Dinesh, Park, Jason Y., Yang, Mary S., Martinez, Diana P., Koduru, Prasad, Wilson, Kathleen S., Garcia, Rolando, Uddin, Naseem
Format: Article
Language:English
Subjects:
Cytogenetics
Forkhead Box Protein O1 - genetics
Forkhead Transcription Factors - genetics
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Paired Box Transcription Factors - genetics
Receptor, Fibroblast Growth Factor, Type 1 - genetics
Rhabdomyosarcoma
Rhabdomyosarcoma - diagnosis
Rhabdomyosarcoma - genetics
Sarcoma
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Summary: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.
ISSN:1066-8969
1940-2465
DOI:10.1177/10668969221098084