Department of Clinical and Biological Sciences, University of Turin, Mauriziano Hospital, 10128 Turin, Italy.
Int J Mol Sci. 2024 Oct 10;25(20):10885. doi: 10.3390/ijms252010885.
More than 90% of patients affected by mastocytosis are characterized by a somatic point mutation of , which induces ligand-independent activation of the receptor and downstream signal triggering, ultimately leading to mast cell accumulation and survival. The most frequent mutation is p.D816V, but other rarer mutations can also be found. These mutations often have a very low variant allele frequency (VAF), well below the sensitivity of common next-generation sequencing (NGS) methods used in routine diagnostic panels. Highly sensitive methods are developing for detecting mutations. This review summarizes the current indications on the recommended methods and on how to manage and interpret molecular data for the diagnosis and follow-up of patients with mastocytosis.
超过 90%的肥大细胞增多症患者的特征是存在体细胞点突变 ，该突变导致受体的配体非依赖性激活和下游信号触发，最终导致肥大细胞聚集和存活。最常见的突变是 p.D816V，但也可以发现其他罕见的突变。这些突变通常具有非常低的变异等位基因频率 (VAF)，远低于常规诊断面板中使用的常见下一代测序 (NGS) 方法的灵敏度。正在开发用于检测突变的高灵敏度方法。本文综述了目前关于推荐方法的适应证，以及如何管理和解释肥大细胞增多症患者的分子数据以进行诊断和随访。
