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:10.1038/s41439-022-00185-x

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

Hum Genome Var. 2022 Mar 8;9(1):8. doi: 10.1038/s41439-022-00185-x.

Authors

Akimasa Tomida^{1

2}, Tomohiro Chiyonobu^{3

4

5}, Shinsaku Tokuda⁶, Mitsuru Miyachi², Kyoko Murashima¹, Makoto Hirata⁷, Masanori Nakagawa¹, Tomoko Iehara², Junya Kuroda^{8

9}, Koichi Takayama^{6

10}

Affiliations

¹ Genetic Counseling Unit, University Hospital, Kyoto Prefectural University of Medicine, Kyoto, Japan.
² Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
³ Genetic Counseling Unit, University Hospital, Kyoto Prefectural University of Medicine, Kyoto, Japan. chiyono@koto.kpu-m.ac.jp.
⁴ Department of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. chiyono@koto.kpu-m.ac.jp.
⁵ Department of Medical Genetics, University Hospital, Kyoto Prefectural University of Medicine, Kyoto, Japan. chiyono@koto.kpu-m.ac.jp.
⁶ Department of Pulmonary Medicine, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
⁷ Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan.
⁸ Department of Medical Genetics, University Hospital, Kyoto Prefectural University of Medicine, Kyoto, Japan.
⁹ Division of Hematology and Oncology, Department of Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan.
¹⁰ Department of Cancer Genome Medical Center, University Hospital, Kyoto Prefectural University of Medicine, Kyoto, Japan.

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.