Zhibo Zhang, Jia Yin, Guoli Lian, Xiebing Bao, Meng Hu, Zhenfang Liu, Yuan Yu, Ruihua Mi, Yabei Zuo, Pengcheng Shi, Weiyan Zheng, Qian Jiang, Hongying Chao, Peifang Xiao, Weijuan Yu, Yanqiu Han, Yu Wu, Yan Zeng, Depei Wu, Xiaofei Yang, Suning Chen

A multi-center retrospective comparison between systemic mastocytosis with t(8;21) AML and KIT mutant t(8;21) AML

  • Hematology

Concomitant systemic mastocytosis (SM) has been detected in a proportion of patients with AML with t(8;21)(q22;q22.1)/RUNX1::RUNX1T1 with KIT gene mutations [KITpos t(8;21) AML]. However, there are few reports summarizing characteristics of SM-t(8;21) AML due to its rarity. In this multi-center, retrospective study, we made the largest-to-date comparison of the clinical characteristics, molecular features and prognosis between SM-t(8;21) AML (n=24) and KITpos t(8;21) AML (n=212). In addition to higher mast cell burdens (p<0.001), lower platelet levels (p=0.001), higher variant allele frequency (VAF) in KIT mutations (34.00% vs 16.40%, p=0.008) and more KIT exon 17 mutations (34.70% vs 21.05%, p=0.025) were observed in SM-t(8;21) AML patients. Moreover, mutations at KITD816 (69.57% vs 45.75%, p=0.030), KITD816V (45.83% vs 27.83%, p=0.046) and DNMT3A (8.70% vs 0.96%, p=0.050) were more common in SM-t(8;21) AML. Compared to non-D816 KITpos t(8;21) AML, SM-t(8;21) AML and KITD816 t(8;21) AML were at higher risk of refractory/relapsed leukemia (26.4% vs 50.0% vs 50.0%, p=0.002) with dismal prognosis [2-year OS: 79.2% vs 34.7% vs 60.7%, p=0.004; 2-year EFS: 61.7%vs 36.2% vs 39.7%, p=0.012]. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) could only improve prognosis of SM-t(8;21) AML patients. For all patients in our cohort, age > 60 years, KITD816 mutations and BCOR mutations were showed to be independent unfavorable predictors for OS and EFS. Our results revealed that SM-t(8;21) AML shared more similar clinical characteristics, molecular features and clinical outcomes with KITD816 t(8;21) AML.

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