{"title":"与参考数据库相比,退伍军人黑色素瘤的综合基因组图谱。","authors":"Daniel Mettman, Margaryta Stoieva, Maryam Abdo","doi":"10.12788/fp.0607","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Veterans represent a unique patient population with various exposures that may predispose them to cancer. Mutational signatures associated with these exposures are described in other tumor types.</p><p><strong>Methods: </strong>This retrospective review analyzes the comprehensive genomic profiling reports of 35 veterans with metastatic melanoma at a large US Department of Veterans Affairs medical center. The genomic findings were compared with those from the Catalogue of Somatic Mutations in Cancer and The Cancer Genome Atlas.</p><p><strong>Results: </strong>The melanomas found in these veterans showed a significantly higher frequency of variants in <i>CDKN2A/B</i>; a significantly lower frequency of variants in <i>ROS1</i>, <i>GRIN2A</i>, <i>KDR</i>, <i>KMT2C</i> (<i>MLL3</i>), <i>KMT2D</i> (<i>MLL2</i>), <i>LRP1B</i>, <i>PTPRT</i>, <i>PTCH1</i>, <i>FAT4</i>, and <i>PREX2</i>; and a significantly higher frequency of tumor mutational burdens exceeding 10 mutations/megabase.</p><p><strong>Conclusions: </strong>The presence of statistically significant differences between the genomic findings from the veterans' melanomas and those of general population melanomas from reference databases suggests that additional research is warranted to corroborate these differences and clarify their etiologic, prognostic, and therapeutic relevance.</p>","PeriodicalId":94009,"journal":{"name":"Federal practitioner : for the health care professionals of the VA, DoD, and PHS","volume":"42 Suppl3","pages":"S18-S24"},"PeriodicalIF":0.0000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12494343/pdf/","citationCount":"0","resultStr":"{\"title\":\"Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.\",\"authors\":\"Daniel Mettman, Margaryta Stoieva, Maryam Abdo\",\"doi\":\"10.12788/fp.0607\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Veterans represent a unique patient population with various exposures that may predispose them to cancer. Mutational signatures associated with these exposures are described in other tumor types.</p><p><strong>Methods: </strong>This retrospective review analyzes the comprehensive genomic profiling reports of 35 veterans with metastatic melanoma at a large US Department of Veterans Affairs medical center. The genomic findings were compared with those from the Catalogue of Somatic Mutations in Cancer and The Cancer Genome Atlas.</p><p><strong>Results: </strong>The melanomas found in these veterans showed a significantly higher frequency of variants in <i>CDKN2A/B</i>; a significantly lower frequency of variants in <i>ROS1</i>, <i>GRIN2A</i>, <i>KDR</i>, <i>KMT2C</i> (<i>MLL3</i>), <i>KMT2D</i> (<i>MLL2</i>), <i>LRP1B</i>, <i>PTPRT</i>, <i>PTCH1</i>, <i>FAT4</i>, and <i>PREX2</i>; and a significantly higher frequency of tumor mutational burdens exceeding 10 mutations/megabase.</p><p><strong>Conclusions: </strong>The presence of statistically significant differences between the genomic findings from the veterans' melanomas and those of general population melanomas from reference databases suggests that additional research is warranted to corroborate these differences and clarify their etiologic, prognostic, and therapeutic relevance.</p>\",\"PeriodicalId\":94009,\"journal\":{\"name\":\"Federal practitioner : for the health care professionals of the VA, DoD, and PHS\",\"volume\":\"42 Suppl3\",\"pages\":\"S18-S24\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12494343/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Federal practitioner : for the health care professionals of the VA, DoD, and PHS\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.12788/fp.0607\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/8/15 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Federal practitioner : for the health care professionals of the VA, DoD, and PHS","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.12788/fp.0607","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/8/15 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.
Background: Veterans represent a unique patient population with various exposures that may predispose them to cancer. Mutational signatures associated with these exposures are described in other tumor types.
Methods: This retrospective review analyzes the comprehensive genomic profiling reports of 35 veterans with metastatic melanoma at a large US Department of Veterans Affairs medical center. The genomic findings were compared with those from the Catalogue of Somatic Mutations in Cancer and The Cancer Genome Atlas.
Results: The melanomas found in these veterans showed a significantly higher frequency of variants in CDKN2A/B; a significantly lower frequency of variants in ROS1, GRIN2A, KDR, KMT2C (MLL3), KMT2D (MLL2), LRP1B, PTPRT, PTCH1, FAT4, and PREX2; and a significantly higher frequency of tumor mutational burdens exceeding 10 mutations/megabase.
Conclusions: The presence of statistically significant differences between the genomic findings from the veterans' melanomas and those of general population melanomas from reference databases suggests that additional research is warranted to corroborate these differences and clarify their etiologic, prognostic, and therapeutic relevance.