Bret Wankel , Muhammad Afzal , Eric Y. Loo , Robert E. LeBlanc , Joi B. Carter , Erick Lansigan , Swaroopa Yerrabothala
{"title":"KMT2A::MLLT3融合的急性髓性白血病切面表现为腱鞘面容","authors":"Bret Wankel , Muhammad Afzal , Eric Y. Loo , Robert E. LeBlanc , Joi B. Carter , Erick Lansigan , Swaroopa Yerrabothala","doi":"10.1016/j.lrr.2023.100400","DOIUrl":null,"url":null,"abstract":"<div><p>A 63-year-old woman presented with plaques covering 60 % body-surface-area and leonine facies. Blood work showed no diagnostic aberrancies. Skin biopsy contained a malignant CD4+/CD56+ mononuclear cell population concerning for blastic plasmacytoid dendritic cell neoplasm. A later bone marrow biopsy confirmed AML with <em>KMT2A::MLLT10</em> fusion detected by next-generation sequencing (NGS). This patient's LC preceded blood and marrow based symptoms of AML. NGS of the initial skin biopsy should be considered as part of diagnostic guidelines in cases with LC in the differential as this may have led to earlier diagnosis in this case and future cases.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":null,"pages":null},"PeriodicalIF":0.7000,"publicationDate":"2023-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048923000407/pdfft?md5=0b19d4c2e00f403b405770ee31b33ff3&pid=1-s2.0-S2213048923000407-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Acute myeloid leukemia cutis with KMT2A::MLLT3 fusion presenting with leonine facies\",\"authors\":\"Bret Wankel , Muhammad Afzal , Eric Y. Loo , Robert E. LeBlanc , Joi B. Carter , Erick Lansigan , Swaroopa Yerrabothala\",\"doi\":\"10.1016/j.lrr.2023.100400\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>A 63-year-old woman presented with plaques covering 60 % body-surface-area and leonine facies. Blood work showed no diagnostic aberrancies. Skin biopsy contained a malignant CD4+/CD56+ mononuclear cell population concerning for blastic plasmacytoid dendritic cell neoplasm. A later bone marrow biopsy confirmed AML with <em>KMT2A::MLLT10</em> fusion detected by next-generation sequencing (NGS). This patient's LC preceded blood and marrow based symptoms of AML. NGS of the initial skin biopsy should be considered as part of diagnostic guidelines in cases with LC in the differential as this may have led to earlier diagnosis in this case and future cases.</p></div>\",\"PeriodicalId\":38435,\"journal\":{\"name\":\"Leukemia Research Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2023-11-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2213048923000407/pdfft?md5=0b19d4c2e00f403b405770ee31b33ff3&pid=1-s2.0-S2213048923000407-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Leukemia Research Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2213048923000407\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Leukemia Research Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2213048923000407","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Acute myeloid leukemia cutis with KMT2A::MLLT3 fusion presenting with leonine facies
A 63-year-old woman presented with plaques covering 60 % body-surface-area and leonine facies. Blood work showed no diagnostic aberrancies. Skin biopsy contained a malignant CD4+/CD56+ mononuclear cell population concerning for blastic plasmacytoid dendritic cell neoplasm. A later bone marrow biopsy confirmed AML with KMT2A::MLLT10 fusion detected by next-generation sequencing (NGS). This patient's LC preceded blood and marrow based symptoms of AML. NGS of the initial skin biopsy should be considered as part of diagnostic guidelines in cases with LC in the differential as this may have led to earlier diagnosis in this case and future cases.
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