Spindle cell rhabdomyosarcoma of bone with FUS–TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype

Nooshi K. Dashti, Rebecca N. Wehrs, Brittany C. Thomas, Asha Nair, Jaime Davila, Jan C. Buckner, Anthony P. Martinez, William R. Sukov, Kevin C. Halling, Benjamin M. Howe, Andrew L. Folpe

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

Aims: Rhabdomyosarcomas of bone are extremely rare, with fewer than 10 reported cases. A very rare subtype of spindle cell/sclerosing rhabdomyosarcoma harbouring a FUS–TFCP2 fusion and involving both soft tissue and bone locations has been reported very recently. We report only the fourth case of this unusual, clinically aggressive rhabdomyosarcoma. Material and results: A previously well 72-year-old male presented with a destructive lesion of the mandible. Morphological and immunohistochemical study of a needle biopsy and the subsequent resection showed a spindle cell rhabdomyosarcoma. RNA-seq, RT–PCR and FISH confirmed the presence of the FUS–TFCP2 fusion. Conclusions: Spindle cell rhabdomyosarcomas carrying the FUS–TFCP2 fusion are very rare rhabdomyosarcoma variants with osseous predilection. The classification and differential diagnosis of this unusual molecular variant of spindle cell/sclerosing rhabdomyosarcoma are discussed.

Original languageEnglish (US)
Pages (from-to)514-520
Number of pages7
JournalHistopathology
Volume73
Issue number3
DOIs
StatePublished - Sep 2018

Keywords

  • FUS
  • RNA-seq
  • TFCP2
  • fluorescence in-situ hybridisation
  • rhabdomyosarcoma
  • sclerosing
  • spindle cell

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology

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