Department of Biological Hematology, Pitié-Salpêtrière Hospital, DMU BioGem, AP-HP.Sorbonne University, Paris, France; Department of Biological Immunology, Saint-Antoine Hospital, DMU BioGem, AP-HP.Sorbonne University, Paris, France; Health Environmental Risk Assessment (HERA) Team, Centre of Research in Epidemiology and Statistics (CRESS), Inserm / INRAE, Faculty of Pharmacy, Université de Paris, Paris, France.
Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, Austria; Division of Hematology and Hemostaseology, Department of Internal Medicine, Medical University of Vienna.
Immunol Allergy Clin North Am. 2023 Nov;43(4):651-664. doi: 10.1016/j.iac.2023.04.008. Epub 2023 Jun 11.
A KIT activating mutation (usually KIT D816V) is detected in neoplastic cells in greater than 90% of indolent patients with systemic mastocytosis (SM). In more advanced variants of SM, additional genetic defects can be found in several myeloid malignancy-related genes, which can be detected by applying next-generation sequencing. Currently, the techniques recommended to detect the KIT D816V mutation and quantify the mutational burden in peripheral blood, bone marrow, or other organs/tissues are allele specific-quantitative PCR or droplet digital PCR. These techniques are useful for diagnosis, prognostication, follow-up and monitoring of therapeutic efficacy of cytoreductive agents in patients with SM.
一项研究发现，在 90%以上患有惰性系统性肥大细胞增多症（SM）的患者中，肿瘤细胞中存在 KIT 激活突变（通常是 KIT D816V）。在 SM 的更晚期变异中，在几个与髓样恶性肿瘤相关的基因中可以发现其他遗传缺陷，这可以通过应用下一代测序来检测到。目前，推荐用于检测 KIT D816V 突变并量化外周血、骨髓或其他器官/组织中突变负担的技术是等位基因特异性定量 PCR 或液滴数字 PCR。这些技术对于诊断、预后、随访和监测 SM 患者的细胞减少剂治疗效果非常有用。
