2026-03-13T13:37:49Z https://hama-med.repo.nii.ac.jp/oai

oai:hama-med.repo.nii.ac.jp:02000107 2024-03-15T02:56:19Z 2:15:17

Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series 鋸歯状ポリポーシス症候群患者における体細胞病的バリアントプロファイル：症例集積 日髙, 操希 ヒダカ, ミサキ Hidaka, Misaki open access (C) The Author(s) 2022. 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons. org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. Serrated polyposis syndrome Somatic pathogenic variant Serrated pathway dotoral 医学系研究科 Objective: The serrated pathway is a distinct genetic/epigenetic mechanism of the adenoma-carcinoma sequence in colorectal carcinogenesis. Although many groups have reported the genetic-phenotypic correlation of serrated lesions (SLs), previous studies regarding the serrated pathway were conducted on patients with SLs that have different germline and environmental genetic backgrounds. We aimed to compare pure somatic genetic profiles among SLs within identical patient with SPS. Results: We analyzed SLs from one patient with SPS (Case #1) and compared DNA variant profiles using targeted DNA multigene panels via NGS among the patient’s hyperplastic polyp (HP), three sessile serrated lesions (SSLs), and one traditional serrated adenoma (TSA), and separately analyzed three SSLs and one tubular adenoma (TA) within another patient with SPS (Case #2). In two patients, known pathogenic variant of BRAF (c.1799 T > A, p.Val600Glu) was observed in one TSA and one SSL in Case #1, and in three SSLs within Case #2. The pure somatic pathogenic variant BRAF (c.1799 T > A, p.Val600Glu) among SLs with identical germline genetic background supports its importance as a strong contributor for SLs. Springer Nature 2022-11-22 eng doctoral thesis VoR http://hdl.handle.net/10271/0002000107 https://hama-med.repo.nii.ac.jp/records/2000107 36419139 https://doi.org/10.1186/s13104-022-06245-3 1756-0500 BMC Research Notes 15 350 甲第932号 博士（医学） 2023-03-16 13802 浜松医科大学 https://hama-med.repo.nii.ac.jp/record/2000107/files/DT_932ronbun.pdf application/pdf 1.1 MB 2024-03-11