Intraosseous Spindle Cell Rhabdomyosarcoma with MEIS1:: NCOA2 Fusion - Case Report with Substantial Clinical Follow-up and Review of the Literature

Cancer Invest. 2023 Sep;41(8):704-712. doi: 10.1080/07357907.2023.2255668. Epub 2023 Sep 6.

Abstract

Spindle cell/sclerosing rhabdomyosarcoma (SSRMS) is a clinicopathologically and molecularly heterogeneous disease. Gene fusions have been identified in intraosseous SSRMS, consisting predominantly of EWSR1/FUS::TFCP2 and MEIS1::NCOA2. The former often follow an aggressive clinical course; there is limited clinical follow-up available for the latter. We report here a new case of the very rare intraosseous SSRMS with MEIS1::NCOA2 gene fusion and include the detailed treatment course and 52 months of clinical follow-up. SSRMS with MEIS1::NCOA2 gene fusion appears biologically distinct from other intraosseous SSRMS, following a course characterized by local recurrence with rare reports of metastasis to date.

Keywords: MEIS1; NCOA2; Rhabdomyosarcoma; bone; gene fusion.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Adult
  • Child
  • DNA-Binding Proteins / genetics
  • Follow-Up Studies
  • Humans
  • Nuclear Receptor Coactivator 2 / genetics
  • Rhabdomyosarcoma* / genetics
  • Rhabdomyosarcoma* / pathology
  • Rhabdomyosarcoma* / therapy
  • Transcription Factors* / genetics

Substances

  • Transcription Factors
  • NCOA2 protein, human
  • Nuclear Receptor Coactivator 2
  • TFCP2 protein, human
  • DNA-Binding Proteins