PDF(Pubmed)
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.
摘要：
系统性肥大细胞增多症（SM）是一种罕见的骨髓增殖性肿瘤，其特征是克隆性肥大细胞异常增殖和浸润不同组织。肥大细胞的不受控制的增殖和活化引发血管活性和炎症介质的释放，导致一系列的全身症状.大约95％的SM来自KIT基因的功能获得突变，特别是在816密码子，这突出了它在SM中的重要作用，使其成为一个有吸引力的治疗靶点。尽管KIT阴性SM非常罕见，文献中记录的病例数量的增加使其成为这种疾病的一个有趣的方面。报告的KIT阴性SM的临床表现变化很大，但许多类似于KIT阳性SM。针对KIT的治疗选择已经改变了KIT阳性SM的游戏规则，然而，它们在KIT阴性SM中的作用仍然存在争议。本报告旨在通过介绍两例KIT阴性SM来进一步了解KIT阴性SM，其中之一是对KIT靶向治疗有反应，并对现有文献中报道的病例进行分析。
