Yasumasa Nakata, Fumihiko Ouchi, Kota Yoshifuji, Daichi Sadato, Kouhei Yamamoto, Yuriko Kawase, Takehiko Mori
{"title":"蕈样真菌病累及中枢神经系统的综合遗传学分析:1例报告","authors":"Yasumasa Nakata, Fumihiko Ouchi, Kota Yoshifuji, Daichi Sadato, Kouhei Yamamoto, Yuriko Kawase, Takehiko Mori","doi":"10.1002/jha2.70118","DOIUrl":null,"url":null,"abstract":"<p>The incidence of central nervous system (CNS) involvement in mycosis fungoides (MF) is low. Here, we report a case of CNS involvement 3 years after MF diagnosis, comparing genetic alterations identified by amplicon-based targeted sequencing between a primary skin sample and a brain tissue sample. <i>TNFAIP3</i> mutation, <i>MYC</i> gain, <i>CDKN2A</i>/<i>B</i> loss, and <i>SOCS1</i> loss were concordantly detected, while <i>MYC</i> mutation was only found in the brain sample. This is the first report of a comprehensive genetic analysis of CNS involvement in MF, providing novel insights into genetic factors potentially associated with CNS involvement.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 4","pages":""},"PeriodicalIF":1.2000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70118","citationCount":"0","resultStr":"{\"title\":\"Comprehensive Genetic Analysis of Central Nervous System Involvement in Mycosis Fungoides: A Case Report\",\"authors\":\"Yasumasa Nakata, Fumihiko Ouchi, Kota Yoshifuji, Daichi Sadato, Kouhei Yamamoto, Yuriko Kawase, Takehiko Mori\",\"doi\":\"10.1002/jha2.70118\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>The incidence of central nervous system (CNS) involvement in mycosis fungoides (MF) is low. Here, we report a case of CNS involvement 3 years after MF diagnosis, comparing genetic alterations identified by amplicon-based targeted sequencing between a primary skin sample and a brain tissue sample. <i>TNFAIP3</i> mutation, <i>MYC</i> gain, <i>CDKN2A</i>/<i>B</i> loss, and <i>SOCS1</i> loss were concordantly detected, while <i>MYC</i> mutation was only found in the brain sample. This is the first report of a comprehensive genetic analysis of CNS involvement in MF, providing novel insights into genetic factors potentially associated with CNS involvement.</p>\",\"PeriodicalId\":72883,\"journal\":{\"name\":\"EJHaem\",\"volume\":\"6 4\",\"pages\":\"\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2025-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70118\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"EJHaem\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/jha2.70118\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"EJHaem","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/jha2.70118","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Comprehensive Genetic Analysis of Central Nervous System Involvement in Mycosis Fungoides: A Case Report
The incidence of central nervous system (CNS) involvement in mycosis fungoides (MF) is low. Here, we report a case of CNS involvement 3 years after MF diagnosis, comparing genetic alterations identified by amplicon-based targeted sequencing between a primary skin sample and a brain tissue sample. TNFAIP3 mutation, MYC gain, CDKN2A/B loss, and SOCS1 loss were concordantly detected, while MYC mutation was only found in the brain sample. This is the first report of a comprehensive genetic analysis of CNS involvement in MF, providing novel insights into genetic factors potentially associated with CNS involvement.