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

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_0...

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Detalles Bibliográficos
Autores principales: Tomida, Akimasa, Chiyonobu, Tomohiro, Tokuda, Shinsaku, Miyachi, Mitsuru, Murashima, Kyoko, Hirata, Makoto, Nakagawa, Masanori, Iehara, Tomoko, Kuroda, Junya, Takayama, Koichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904467/
https://www.ncbi.nlm.nih.gov/pubmed/35260566
http://dx.doi.org/10.1038/s41439-022-00185-x