Human Genome Variation (Mar 2022)

Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant

  • Akimasa Tomida,
  • Tomohiro Chiyonobu,
  • Shinsaku Tokuda,
  • Mitsuru Miyachi,
  • Kyoko Murashima,
  • Makoto Hirata,
  • Masanori Nakagawa,
  • Tomoko Iehara,
  • Junya Kuroda,
  • Koichi Takayama

DOI
https://doi.org/10.1038/s41439-022-00185-x
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 4

Abstract

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Abstract Most cases of rhabdomyosarcoma (RMS) are sporadic and not associated with the Lynch syndrome (LS) spectrum. We report a young adult patient with RMS and a family history of colorectal cancer. Comprehensive cancer genomic profiling (CGP) of his tumor revealed a likely pathogenic variant of MSH2, NM_000251.3:c.1741delA (p.I581Lfs*9), which was also present in his blood sample. The widespread use of CGP may reveal that RMS can be a rare manifestation of LS.