Novel fusion genes in spindle cell rhabdomyosarcoma: The spectrum broadens

Diego M. Montoya-Cerrillo, Julio A. Diaz-Perez, Jaylou M. Velez-Torres, Elizabeth A. Montgomery, Andrew E. Rosenberg

Research output: Contribution to journalArticlepeer-review

Abstract

Rhabdomyosarcoma (RMS) encompasses a heterogeneous group of tumors with striated muscle differentiation. RMSs are classified as alveolar, embryonal, spindle cell/sclerosing, and pleomorphic types and molecular analysis of these tumors has identified aberrations that are useful in their further subclassification. Spindle cell rhabdomyosarcoma (SpRMS) is uncommon and has been described with VGLL2 fusions, EWSR1/FUS-TFCP2 rearrangements, and myoD1 mutations—the mutations are associated with significantly different prognoses. In addition, the NCOA2-MEIS1 fusion gene was recently described in two primary intraosseous RMS that contained spindle cell components. Herein, we report three cases of SpRMS harboring different novel fusion genes, one possessing EP300-VGLL3, a second with NCOA2-MEIS1 and CAV1-MET, and the third case had HMGA2-NEGR1 and multiple amplified genes.

Original languageEnglish (US)
Pages (from-to)687-694
Number of pages8
JournalGenes Chromosomes and Cancer
Volume60
Issue number10
DOIs
StatePublished - Oct 2021

Keywords

  • CAV1
  • HMGA2
  • MEIS1
  • MET
  • VGLL3
  • spindle cell rhabdomyosarcoma

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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