Carlen A Yuen, Silin Bao, Mya Sandi Aung, Rhea Shishodia, Xiao-Tang Kong
{"title":"达拉非尼和类固醇治疗中枢神经系统广泛受累的埃尔德海姆-切斯特病：病例报告。","authors":"Carlen A Yuen, Silin Bao, Mya Sandi Aung, Rhea Shishodia, Xiao-Tang Kong","doi":"10.2217/pme-2023-0137","DOIUrl":null,"url":null,"abstract":"<p><p>Erdheim-Chester disease (ECD) is an exceedingly rare non-Langerhans cell CD68<sup>+</sup> CD1a<sup>-</sup> S100<sup>-</sup> histiocytic multi-organ disease. Diagnosis of ECD is often delayed due to non-specific radiographic findings and heterogeneous lesional tissue. Increasingly, the role of genomic alterations is being recognized for both diagnosis and treatment of ECD. More than half of ECD patients harbor the <i>BRAF<sup>V600E</sup></i> mutation. Evaluation for this mutation be can falsely negative on immunohistochemical staining and confirmation with molecular analyses is recommended. We present a case of the 44 year-old male with <i>BRAF</i><sup><i>V600E</i></sup>-positive ECD treated successfully with steroids followed by single-agent dabrafenib.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"71-78"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report.\",\"authors\":\"Carlen A Yuen, Silin Bao, Mya Sandi Aung, Rhea Shishodia, Xiao-Tang Kong\",\"doi\":\"10.2217/pme-2023-0137\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Erdheim-Chester disease (ECD) is an exceedingly rare non-Langerhans cell CD68<sup>+</sup> CD1a<sup>-</sup> S100<sup>-</sup> histiocytic multi-organ disease. Diagnosis of ECD is often delayed due to non-specific radiographic findings and heterogeneous lesional tissue. Increasingly, the role of genomic alterations is being recognized for both diagnosis and treatment of ECD. More than half of ECD patients harbor the <i>BRAF<sup>V600E</sup></i> mutation. Evaluation for this mutation be can falsely negative on immunohistochemical staining and confirmation with molecular analyses is recommended. We present a case of the 44 year-old male with <i>BRAF</i><sup><i>V600E</i></sup>-positive ECD treated successfully with steroids followed by single-agent dabrafenib.</p>\",\"PeriodicalId\":94167,\"journal\":{\"name\":\"Personalized medicine\",\"volume\":\" \",\"pages\":\"71-78\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Personalized medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2217/pme-2023-0137\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/26 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2217/pme-2023-0137","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/26 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report.
Erdheim-Chester disease (ECD) is an exceedingly rare non-Langerhans cell CD68+ CD1a- S100- histiocytic multi-organ disease. Diagnosis of ECD is often delayed due to non-specific radiographic findings and heterogeneous lesional tissue. Increasingly, the role of genomic alterations is being recognized for both diagnosis and treatment of ECD. More than half of ECD patients harbor the BRAFV600E mutation. Evaluation for this mutation be can falsely negative on immunohistochemical staining and confirmation with molecular analyses is recommended. We present a case of the 44 year-old male with BRAFV600E-positive ECD treated successfully with steroids followed by single-agent dabrafenib.
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