Over the past decade, we have witnessed significant advances in the molecular characterization of systemic mastocytosis (SM). This has provided important information for a better understanding of the pathogenesis of the disease but has also practically impacted the way we diagnose and manage it. Advances in molecular testing have run in parallel with advances in therapeutic targeting of constitutive active KIT, the major driver of the disease. Therefore, assessing the molecular landscape in each SM patient is essential for diagnosis, prognosis, treatment, and therapeutic efficacy monitoring. This is facilitated by the routine availability of novel technologies like digital PCR and NGS. This review aims to summarize the pathogenesis of the disease, discuss the value of molecular diagnostic testing and how it should be performed, and provide an overview of present and future therapeutic concepts based on fine molecular characterization of SM patients.

中文翻译：

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系统性肥大细胞增多症：分子景观和治疗意义。

在过去的十年中，我们见证了系统性肥大细胞增多症 (SM) 的分子表征方面的重大进展。这为更好地了解疾病的发病机制提供了重要信息，但实际上也影响了我们诊断和管理疾病的方式。分子检测的进展与本病的主要驱动因素组成型活性 KIT 的治疗靶向进展同步进行。因此，评估每个 SM 患者的分子状况对于诊断、预后、治疗和治疗效果监测至关重要。这得益于数字 PCR 和 NGS 等新技术的常规可用性。这篇综述旨在总结该病的发病机制，讨论分子诊断检测的价值以及应该如何进行，