Unraveling the Rare Entity of KIT D816V-Negative Systemic Mastocytosis.

IF 1.3 Q4 HEMATOLOGY
Journal of hematology Pub Date : 2024-06-01 Epub Date: 2024-06-28 DOI:10.14740/jh1279
Ruah Alyamany, Chams Alkhalaf Albachir, Sarah Alsaleh, Alaa Hamad, Sameeha Kaiser Abdulwali, Ahmad S Alotaibi, Syed Osman Ahmed, Mansour Alfayez
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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.

揭开 KIT D816V 阴性系统性肥大细胞增多症罕见实体的神秘面纱
全身性肥大细胞增多症(SM)是一种罕见的骨髓增生性肿瘤,其特点是克隆肥大细胞异常增殖并浸润不同组织。肥大细胞不受控制的增殖和激活会引发血管活性和炎症介质的释放,从而导致一系列全身症状。约 95% 的 SM 是由 KIT 基因(特别是密码子 816 处)的功能增益突变引起的,这突显了 KIT 基因在 SM 中的重要作用,并使其成为具有吸引力的治疗靶点。虽然 KIT 阴性 SM 异常罕见,但文献中记录的病例数量的增加使其成为该疾病的一个引人关注的方面。据报道,KIT阴性SM的临床表现千差万别,但许多与KIT阳性SM相似。KIT 靶向治疗方案改变了 KIT 阳性 SM 的治疗方法,但它们在 KIT 阴性 SM 中的作用仍存在争议。本报告旨在通过介绍两例KIT阴性SM病例(其中一例对KIT靶向治疗有反应)并分析现有文献中报道的病例,进一步了解KIT阴性SM。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of hematology
Journal of hematology HEMATOLOGY-
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