Georgio Medawar, Krishna Sakalabaktula, Jenna Magri, Elizabeth Rinker, Praneeth Baratam
{"title":"KIT v560d突变全身性肥大细胞增多症与高危骨髓增生异常综合征相关：全身性肥大细胞增多症相关血液学肿瘤的一个独特病例","authors":"Georgio Medawar, Krishna Sakalabaktula, Jenna Magri, Elizabeth Rinker, Praneeth Baratam","doi":"10.1155/crh/4360304","DOIUrl":null,"url":null,"abstract":"<p><p>Systemic mastocytosis (SM) is a rare hematologic disorder characterized by clonal proliferation of mast cells in the bone marrow and/or other organs. SM-associated hematologic neoplasm (SM-AHN) is one of the advanced SM variants that usually confer a poor prognosis. We present a case of a 75-year-old female patient with SM-AHN, specifically myelodysplastic syndrome (MDS), that harbored a unique KIT mutation KIT V560D, not previously described in the literature in this setting. We describe the clinical course and the outcome with the use of avapritinib, midostaurin, and decitabine-cedazuridine. <b>Trial Registration:</b> ClinicalTrials.gov identifier: NCT00782067.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"4360304"},"PeriodicalIF":0.7000,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11625085/pdf/","citationCount":"0","resultStr":"{\"title\":\"KIT V560D-Mutated Systemic Mastocytosis Associated With High-Risk Myelodysplastic Syndrome: A Unique Case of Systemic Mastocytosis-Associated Hematologic Neoplasm.\",\"authors\":\"Georgio Medawar, Krishna Sakalabaktula, Jenna Magri, Elizabeth Rinker, Praneeth Baratam\",\"doi\":\"10.1155/crh/4360304\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Systemic mastocytosis (SM) is a rare hematologic disorder characterized by clonal proliferation of mast cells in the bone marrow and/or other organs. SM-associated hematologic neoplasm (SM-AHN) is one of the advanced SM variants that usually confer a poor prognosis. We present a case of a 75-year-old female patient with SM-AHN, specifically myelodysplastic syndrome (MDS), that harbored a unique KIT mutation KIT V560D, not previously described in the literature in this setting. We describe the clinical course and the outcome with the use of avapritinib, midostaurin, and decitabine-cedazuridine. <b>Trial Registration:</b> ClinicalTrials.gov identifier: NCT00782067.</p>\",\"PeriodicalId\":46307,\"journal\":{\"name\":\"Case Reports in Hematology\",\"volume\":\"2024 \",\"pages\":\"4360304\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2024-11-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11625085/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/crh/4360304\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/crh/4360304","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
KIT V560D-Mutated Systemic Mastocytosis Associated With High-Risk Myelodysplastic Syndrome: A Unique Case of Systemic Mastocytosis-Associated Hematologic Neoplasm.
Systemic mastocytosis (SM) is a rare hematologic disorder characterized by clonal proliferation of mast cells in the bone marrow and/or other organs. SM-associated hematologic neoplasm (SM-AHN) is one of the advanced SM variants that usually confer a poor prognosis. We present a case of a 75-year-old female patient with SM-AHN, specifically myelodysplastic syndrome (MDS), that harbored a unique KIT mutation KIT V560D, not previously described in the literature in this setting. We describe the clinical course and the outcome with the use of avapritinib, midostaurin, and decitabine-cedazuridine. Trial Registration: ClinicalTrials.gov identifier: NCT00782067.
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