Ruah Alyamany, Chams Alkhalaf Albachir, Sarah Alsaleh, Alaa Hamad, Sameeha Kaiser Abdulwali, Ahmad S Alotaibi, Syed Osman Ahmed, Mansour Alfayez
{"title":"Unraveling the Rare Entity of <i>KIT</i> D816V-Negative Systemic Mastocytosis.","authors":"Ruah Alyamany, Chams Alkhalaf Albachir, Sarah Alsaleh, Alaa Hamad, Sameeha Kaiser Abdulwali, Ahmad S Alotaibi, Syed Osman Ahmed, Mansour Alfayez","doi":"10.14740/jh1279","DOIUrl":null,"url":null,"abstract":"<p><p>Systemic mastocytosis (SM) is a rare type of myeloproliferative neoplasm characterized by abnormal proliferation and infiltration of different tissue by clonal mast cells. The uncontrolled proliferation and activation of mast cells trigger the release of vasoactive and inflammatory mediators, resulting in a cascade of systemic symptoms. Around 95% of SM arise from a gain-of-function mutation at the <i>KIT</i> gene, specifically at codon 816, which highlights its essential role in SM and makes it an attractive target for therapy. Although <i>KIT</i>-negative SM is exceptionally rare, the increased number of cases documented in the literature makes it an intriguing dimension of this disorder. The reported clinical manifestations of <i>KIT</i>-negative SM are widely variable, but many are similar to <i>KIT</i>-positive SM. KIT-targeted therapeutic options have been a game-changer in <i>KIT</i>-positive SM, however their role in <i>KIT</i>-negative SM remains controversial. This report aimed to further understand <i>KIT</i>-negative SM by presenting two cases of <i>KIT</i>-negative SM, one of which was responsive to KIT-targeted therapy, and analyzing reported cases in the existing literature.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236357/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14740/jh1279","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/28 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Systemic mastocytosis (SM) is a rare type of myeloproliferative neoplasm characterized by abnormal proliferation and infiltration of different tissue by clonal mast cells. The uncontrolled proliferation and activation of mast cells trigger the release of vasoactive and inflammatory mediators, resulting in a cascade of systemic symptoms. Around 95% of SM arise from a gain-of-function mutation at the KIT gene, specifically at codon 816, which highlights its essential role in SM and makes it an attractive target for therapy. Although KIT-negative SM is exceptionally rare, the increased number of cases documented in the literature makes it an intriguing dimension of this disorder. The reported clinical manifestations of KIT-negative SM are widely variable, but many are similar to KIT-positive SM. KIT-targeted therapeutic options have been a game-changer in KIT-positive SM, however their role in KIT-negative SM remains controversial. This report aimed to further understand KIT-negative SM by presenting two cases of KIT-negative SM, one of which was responsive to KIT-targeted therapy, and analyzing reported cases in the existing literature.