Tashi Tsewang, Deininger Michael W
Division of Hematology and Hematologic Malignancies, Huntsman Cancer Institute, University of Utah, 2000, Circle of Hope, Salt Lake City, UT 84112, USA.
Division of Hematology and Oncology, Medical College of Wisconsin, Versiti Blood Research Institute, 8727 West Watertown Plank Road, Milwaukee, WI 53226, USA.
Immunol Allergy Clin North Am. 2023 Nov;43(4):723-741. doi: 10.1016/j.iac.2023.04.009. Epub 2023 Jun 4.
Advanced systemic mastocytosis (AdvSM) is a heterogeneous group of disorders characterized by neoplastic mast cell-related organ damage and frequently associated with a myeloid neoplasm. The 3 clinical entities that comprise AdvSM are aggressive SM (ASM), SM-associated hematologic neoplasm, and mast cell leukemia. A gain-of-function KIT D816 V mutation is the primary oncogenic driver found in about 90% of all patients with AdvSM. Midostaurin, an oral multikinase inhibitor with activity against KIT D816V, and avapritinib, an oral selective KIT D816V inhibitor are approved for AdvSM.
晚期系统性肥大细胞增多症(AdvSM)是一组异质性疾病,其特征为肿瘤性肥大细胞相关的器官损害,且常与髓系肿瘤相关。构成AdvSM的3种临床实体为侵袭性SM(ASM)、SM相关血液肿瘤和肥大细胞白血病。功能获得性KIT D816V突变是在约90%的AdvSM患者中发现的主要致癌驱动因素。米哚妥林是一种对KIT D816V有活性的口服多激酶抑制剂,阿伐替尼是一种口服选择性KIT D816V抑制剂,二者均被批准用于治疗AdvSM。