日本のゲノムデータベースを用いた眼、皮膚、頭頸部悪性黒色腫の遺伝子解析

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日本のゲノムデータベースを用いた眼、皮膚、頭頸部悪性黒色腫の遺伝子解析

Persistent ID (NDL): info:ndljp/pid/14551090

Material type: 博士論文

Author: 松元, 隼人

Publisher: John Wiley & Sons

Date granted: 2025-03-19

Material Format: Digital

Capacity, size, etc.: -

Degree grantor and degree: 鹿児島大学,博士(医学)

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Note (General)：: 出版タイプ： VoR博士論文全文, 博士論文要旨, 最終試験結果の要旨, 論文審査の要旨Objectives：The purpose of this study is to compare genetic mutations, tumor mutation burden (TMB), and the...

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Material Type: 博士論文
Title: 日本のゲノムデータベースを用いた眼、皮膚、頭頸部悪性黒色腫の遺伝子解析
Author/Editor: 松元, 隼人
Author Heading: 松元, 隼人
Publication, Distribution, etc.: John Wiley & Sons
Publication Date: 2025-03-19
Publication Date (W3CDTF): 2025-03-19
Alternative Title: Genetic Analysis of Melanoma Types Using Japanese Genomic Database
Degree Grantor: 鹿児島大学
Date Granted: 2025-03-19
Date Granted (W3CDTF): 2025-03-19
Dissertation Number: 甲総研第784号
Degree Type: 博士(医学)
Text Language Code: eng
Subject Heading: genetic mutations
head and neck mucosal melanoma
ocular melanoma
skin melanoma
tumor mutation burden
Target Audience: 一般
Note (General): 出版タイプ： VoR
博士論文全文, 博士論文要旨, 最終試験結果の要旨, 論文審査の要旨
Objectives：The purpose of this study is to compare genetic mutations, tumor mutation burden (TMB), and the effects of molecular targeted drugs and immune checkpoint inhibitors (ICIs) in head and neck mucosal melanoma (HNMUM) with those in skin melanoma (SKM) and ocular melanoma (OM).Methods：Data were analyzed for 72 consecutive patients with HNMUM, including 366 with SKM and 31 with OM, registered at the Japan National Cancer Center, Center for Cancer Genomics and Advanced Therapeutics (C-CAT) between June 2019 and October 2023. Genetic alterations and TMB were determined by FoundationOne CDx next-generation sequencing.Results：The top 10 mutations in HNMUM were RAD21 (47.2%), NBN (45.8%), MYC (40.3%), LYN (31.9%), NRAS (29.1%), IRF4 (23.6%), DAXX (22.2%), KIT (22.2%), NOTCH3 (20.8%), and DDR1 (19.4%), with 16.6 ± 0.8 (mean ± SEM) mutations/individual. In SKM, BRAF (p = 0.04) mutation was associated with a significantly better prognosis. The TMB values were 5.7 ± 2.1 (mean ± SEM) in HNMUM, 4.1 ± 0.2 in SKM, and 3.4 ± 0.9 in OM, with no significant differences among the three groups. The median survival time for patients with distant metastases was 803 (95% confidence interval: 539-NA) days for HNMUM, 1413 (831–2172) days for SKM, and 1138 (438-NA) days for OM.Conclusions：The top 10 mutations in HNMUM are closer to those in OM than those in SKM. There was no significant difference in TMB values or survival rates with regard to the therapeutic effect of ICIs among the diseases, which suggests that current treatment of HNMUM with ICIs is appropriate.
Hayato Matsumoto, Hiromi Nagano, Takayuki Kyutoku, Masaru YamashitaGenetic Analysis of Melanoma Types Using Japanese Genomic DatabaseLaryngoscope, 135:134–139, 2025https://doi.org/10.1002/lary.31676
Persistent ID (NDL): info:ndljp/pid/14551090
https://dl.ndl.go.jp/pid/14551090
Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文
https://dl.ndl.go.jp/collections/A00014
Acquisition Basis: 博士論文（自動収集）
Date Accepted (W3CDTF): 2025-11-07T22:06:05+09:00
Format (IMT): application/pdf
Access Restrictions: 国立国会図書館内限定公開
Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
Availability of remote photoduplication service: 可
Periodical Title (URI): http://hdl.handle.net/10232/0002000864
Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション
https://dl.ndl.go.jp