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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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:
Data Report
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
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author Tomida, Akimasa
Chiyonobu, Tomohiro
Tokuda, Shinsaku
Miyachi, Mitsuru
Murashima, Kyoko
Hirata, Makoto
Nakagawa, Masanori
Iehara, Tomoko
Kuroda, Junya
Takayama, Koichi
author_facet Tomida, Akimasa
Chiyonobu, Tomohiro
Tokuda, Shinsaku
Miyachi, Mitsuru
Murashima, Kyoko
Hirata, Makoto
Nakagawa, Masanori
Iehara, Tomoko
Kuroda, Junya
Takayama, Koichi
author_sort Tomida, Akimasa
collection PubMed
description 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.
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spelling pubmed-89044672022-03-23 Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant Tomida, Akimasa Chiyonobu, Tomohiro Tokuda, Shinsaku Miyachi, Mitsuru Murashima, Kyoko Hirata, Makoto Nakagawa, Masanori Iehara, Tomoko Kuroda, Junya Takayama, Koichi Hum Genome Var Data Report 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. Nature Publishing Group UK 2022-03-08 /pmc/articles/PMC8904467/ /pubmed/35260566 http://dx.doi.org/10.1038/s41439-022-00185-x Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Tomida, Akimasa
Chiyonobu, Tomohiro
Tokuda, Shinsaku
Miyachi, Mitsuru
Murashima, Kyoko
Hirata, Makoto
Nakagawa, Masanori
Iehara, Tomoko
Kuroda, Junya
Takayama, Koichi
Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant
title Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant
title_full Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant
title_fullStr Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant
title_full_unstemmed Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant
title_short Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant
title_sort pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline msh2 variant
topic Data Report
url 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
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