Matthew J Hamilton, Loren W Greene, Lauren M Madigan, Sa A Wang, Cecilia Arana Yi, Andrew Kuykendall, Tracy I George, Mariana C Castells
{"title":"病例报告:对一名有难治性症状的懒散性系统性肥大细胞增多症患者的多学科治疗。","authors":"Matthew J Hamilton, Loren W Greene, Lauren M Madigan, Sa A Wang, Cecilia Arana Yi, Andrew Kuykendall, Tracy I George, Mariana C Castells","doi":"10.3389/falgy.2024.1401187","DOIUrl":null,"url":null,"abstract":"<p><p>Systemic mastocytosis (SM) is a rare hematologic condition characterized by the proliferation and accumulation in tissue of clonal mast cells in multiple organ systems. The release of mast cell mediators in the indolent disease type and the predominant mast cell infiltration of tissues in advanced disease contribute to the heterogeneous clinical presentation. The disease driver in >90% of adult cases is an activating <i>KIT</i> mutation, with D816V being the most frequent. Here we describe a case of a young adult male presenting with osteoporosis with associated symptoms of reflux and a history of bee sting anaphylaxis. A multidisciplinary approach to the diagnosis and management was required to minimize morbidities and prevent complications. Current best supportive care was inadequate to control the patient's disease, and a selective KIT D816V inhibitor (avapritinib) was initiated. Conventional, and advanced therapies, including those in the treatment pipeline for SM are discussed.</p>","PeriodicalId":73062,"journal":{"name":"Frontiers in allergy","volume":null,"pages":null},"PeriodicalIF":3.3000,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11527781/pdf/","citationCount":"0","resultStr":"{\"title\":\"Case Report: Multidisciplinary management of a patient with indolent systemic mastocytosis and refractory symptoms.\",\"authors\":\"Matthew J Hamilton, Loren W Greene, Lauren M Madigan, Sa A Wang, Cecilia Arana Yi, Andrew Kuykendall, Tracy I George, Mariana C Castells\",\"doi\":\"10.3389/falgy.2024.1401187\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Systemic mastocytosis (SM) is a rare hematologic condition characterized by the proliferation and accumulation in tissue of clonal mast cells in multiple organ systems. The release of mast cell mediators in the indolent disease type and the predominant mast cell infiltration of tissues in advanced disease contribute to the heterogeneous clinical presentation. The disease driver in >90% of adult cases is an activating <i>KIT</i> mutation, with D816V being the most frequent. Here we describe a case of a young adult male presenting with osteoporosis with associated symptoms of reflux and a history of bee sting anaphylaxis. A multidisciplinary approach to the diagnosis and management was required to minimize morbidities and prevent complications. Current best supportive care was inadequate to control the patient's disease, and a selective KIT D816V inhibitor (avapritinib) was initiated. Conventional, and advanced therapies, including those in the treatment pipeline for SM are discussed.</p>\",\"PeriodicalId\":73062,\"journal\":{\"name\":\"Frontiers in allergy\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2024-10-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11527781/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Frontiers in allergy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3389/falgy.2024.1401187\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"ALLERGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in allergy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3389/falgy.2024.1401187","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"ALLERGY","Score":null,"Total":0}
引用次数: 0
摘要
系统性肥大细胞增多症(SM)是一种罕见的血液病,其特点是克隆肥大细胞在多个器官系统的组织中增殖和聚集。轻型疾病中肥大细胞介质的释放和晚期疾病中肥大细胞对组织的主要浸润导致了不同的临床表现。90%以上的成人病例的疾病驱动因素是激活性 KIT 突变,其中以 D816V 突变最为常见。在此,我们描述了一例年轻男性骨质疏松症病例,该病例伴有反流症状和蜂蜇过敏性休克病史。为了最大限度地降低发病率和预防并发症,需要采用多学科方法进行诊断和管理。目前的最佳支持治疗不足以控制患者的病情,因此开始使用选择性 KIT D816V 抑制剂(阿伐替尼)。本文讨论了传统疗法和先进疗法,包括正在研究中的 SM 治疗方法。
Case Report: Multidisciplinary management of a patient with indolent systemic mastocytosis and refractory symptoms.
Systemic mastocytosis (SM) is a rare hematologic condition characterized by the proliferation and accumulation in tissue of clonal mast cells in multiple organ systems. The release of mast cell mediators in the indolent disease type and the predominant mast cell infiltration of tissues in advanced disease contribute to the heterogeneous clinical presentation. The disease driver in >90% of adult cases is an activating KIT mutation, with D816V being the most frequent. Here we describe a case of a young adult male presenting with osteoporosis with associated symptoms of reflux and a history of bee sting anaphylaxis. A multidisciplinary approach to the diagnosis and management was required to minimize morbidities and prevent complications. Current best supportive care was inadequate to control the patient's disease, and a selective KIT D816V inhibitor (avapritinib) was initiated. Conventional, and advanced therapies, including those in the treatment pipeline for SM are discussed.