Stanford Cancer Institute/Stanford University School of Medicine, Stanford, Calif.
Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, Germany.
J Allergy Clin Immunol Pract. 2022 Aug;10(8):2025-2038.e1. doi: 10.1016/j.jaip.2022.05.034. Epub 2022 Jun 18.
Advanced systemic mastocytosis (AdvSM) is characterized by the presence of KIT D816V and other somatic mutations (eg, in SRSF2, ASXL1, and RUNX1) in 95% and 60% to 70% of patients, respectively. The biological and clinical consequences of AdvSM include multilineage involvement (eg, associated hematologic neoplasm) in 60% to 80% of patients, variable infiltration and damage (C-findings) of predominantly bone marrow and visceral organs through affected mast cell (MC) and non-MC lineages, and elevated levels of serum tryptase. Recently, the treatment landscape has substantially changed with the introduction of the multikinase/KIT inhibitor midostaurin and the selective KIT D816V inhibitor avapritinib. In this review, we discuss the evolution of AdvSM response criteria that have been developed to better capture clinical benefit (eg, improved responses and progression-free and overall survival). We propose refined response criteria from European Competence Network on Mastocytosis and American Initiative in Mast Cell Diseases investigators that use a tiered approach to segregate the effects of histopathologic (eg, bone marrow MC burden, tryptase), molecular (eg, KIT D816V variant allele frequency), clinical (eg, C-findings), and symptom response on long-term outcomes. These response criteria require evaluation in future prospective clinical trials of selective KIT inhibitors and other novel agents.
高级系统性肥大细胞增多症(AdvSM)的特征是 95%的患者存在 KIT D816V 和其他体细胞突变(例如,在 SRSF2、ASXL1 和 RUNX1 中),分别为 60%至 70%。AdvSM 的生物学和临床后果包括多谱系受累(例如,伴有血液系统肿瘤),在 60%至 80%的患者中,受影响的肥大细胞(MC)和非 MC 谱系的 MC 和非 MC 谱系的骨髓和内脏器官的浸润和损伤(C 发现)程度不同,以及血清胰蛋白酶水平升高。最近,随着多激酶/KIT 抑制剂米哚妥林和选择性 KIT D816V 抑制剂 avapritinib 的引入,治疗领域发生了重大变化。在这篇综述中,我们讨论了为更好地捕获临床获益(例如,改善反应、无进展和总生存期)而开发的 AdvSM 反应标准的演变。我们提出了由欧洲肥大细胞网络能力和美国肥大细胞疾病倡议研究人员提出的改良反应标准,该标准采用分层方法来分离组织病理学(例如,骨髓 MC 负担、胰蛋白酶)、分子(例如,KIT D816V 变体等位基因频率)、临床(例如,C 发现)和症状反应对长期结局的影响。这些反应标准需要在未来针对选择性 KIT 抑制剂和其他新型药物的前瞻性临床试验中进行评估。