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。

IF 3.3 Q2 ALLERGY
Frontiers in allergy Pub Date : 2024-10-18 eCollection Date: 2024-01-01 DOI:10.3389/falgy.2024.1401187
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":"5 ","pages":"1401187"},"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\":\"5 \",\"pages\":\"1401187\"},\"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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
2.80
自引率
0.00%
发文量
0
审稿时长
12 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信