Bibliographic Details
| Title: |
Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant |
| Authors: |
Akimasa Tomida, Tomohiro Chiyonobu, Shinsaku Tokuda, Mitsuru Miyachi, Kyoko Murashima, Makoto Hirata, Masanori Nakagawa, Tomoko Iehara, Junya Kuroda, Koichi Takayama |
| Source: |
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022) |
| Publisher Information: |
Nature Publishing Group, 2022. |
| Publication Year: |
2022 |
| Collection: |
LCC:Genetics
LCC:Life |
| Subject Terms: |
Genetics, QH426-470, Life, QH501-531 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2054-345X |
| Relation: |
https://doaj.org/toc/2054-345X |
| DOI: |
10.1038/s41439-022-00185-x |
| Access URL: |
https://doaj.org/article/58ac4f96de4140409ba8de880954adda |
| Accession Number: |
edsdoj.58ac4f96de4140409ba8de880954adda |
| Database: |
Directory of Open Access Journals |
