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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
JournalInternational Journal of Surgical Pathology
DOIs
StateAccepted/In press - 2022

Keywords

  • amplification
  • epithelioid rhabdomyosarcoma
  • FGFR1
  • FOXO1
  • gene fusion
  • NSD3
  • rhabdomyosarcoma
  • translocation

ASJC Scopus subject areas

  • Surgery
  • Anatomy
  • Pathology and Forensic Medicine

Fingerprint

Dive into the research topics of 'Rhabdomyosarcoma With Epithelioid Features And NSD3::FOXO1 Fusion: Evidence For Reconsideration Of Previously Reported FOXO1::FGFR1 Fusion'. Together they form a unique fingerprint.

Cite this