Tang Y W, Pan L J, Li F H, Xiao Z J, Xu Z F
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.
Zhonghua Xue Ye Xue Za Zhi. 2025 May 14;46(5):468-472. doi: 10.3760/cma.j.cn121090-20241011-00389.
Systemic mastocytosis (SM) with an associated myelodysplastic/myeloproliferative neoplasm (MDS/MPN) is a rare subtype of myeloid neoplasms. Avapritinib, a potent and selective inhibitor of KIT D816V, is approved for treating advanced systemic mastocytosis (AdvSM). We report a case of a patient with SM and an associated MDS/MPN treated with avapritinib. The patient achieved sustained complete remission (CR) of SM, with persistent molecular negativity for the KIT D816V mutation, but ultimately succumbed to disease progression to chronic myelomonocytic leukemia (CMML). Although avapritinib, a novel targeted therapy, has significantly improved outcomes for SM, the efficacy of treatment for the associated hematologic neoplasm in patients with SM-AHN may be the primary determinant of long-term overall survival and progression-free survival. This report includes a review of relevant literature to provide insights into the clinical diagnosis and management of this rare entity.
伴有相关骨髓增生异常/骨髓增殖性肿瘤（MDS/MPN）的系统性肥大细胞增多症（SM）是一种罕见的髓系肿瘤亚型。阿伐替尼是一种强效且选择性的KIT D816V抑制剂，已被批准用于治疗晚期系统性肥大细胞增多症（AdvSM）。我们报告了一例接受阿伐替尼治疗的SM合并相关MDS/MPN患者。该患者实现了SM的持续完全缓解（CR），KIT D816V突变持续呈分子阴性，但最终因疾病进展为慢性粒单核细胞白血病（CMML）而死亡。尽管新型靶向治疗药物阿伐替尼显著改善了SM的治疗效果，但对于SM合并相关血液肿瘤患者，相关血液肿瘤的治疗疗效可能是长期总生存和无进展生存的主要决定因素。本报告包括对相关文献的综述，以提供对这一罕见疾病临床诊断和管理的见解。
