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

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.

SUBMITTER: Tomida A

PROVIDER: S-EPMC8904467 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

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

Tomida Akimasa A Chiyonobu Tomohiro T Tokuda Shinsaku S Miyachi Mitsuru M Murashima Kyoko K Hirata Makoto M Nakagawa Masanori M Iehara Tomoko T Kuroda Junya J Takayama Koichi K

Human genome variation 20220308 1

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. ...[more]

PMID: 35260566

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