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

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机构: [1]Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China. [2]National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Institute of Blood and Marrow Transplantation, Colla, Soochow, China. [3]The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China. [4]The First Affiliated Hospital of Soochow University, suzhou, China. [5]The First Afliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China. [6]The First Affiliated Hospital of Guangxi Medical University, Gui Yang, Chile. [7]Qilu Hospital, Shandong University, Jinan, China. [8]The Affiliated Cancer Hospital of Zhengzhou University and Henan Cancer Hospital, zhengzhou, China. [9]The Second Hospital of Hebei Medical University, Hebei Key Laboratory of Hematology, Shijiazhuang, China. [10]Department of Hematology, Nanfang Hospital, Southern Medical University, GUANGZHOU, China. [11]School of Medicine, Zhejiang University. [12]Peking University People's Hospital, Peking University Institute of Hematology, Beijing, China. [13]Changzhou Second HospiAffiliated tal of Nanjing Medical University, Changzhou, China. [14]Children's Hospital of Soochow University. [15]Yantai Yuhuangding Hospital, Yantai, China. [16]The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China. [17]West China Hospital, Sichuan University, Chengdu, China. [18]Chengdu second people's Hospital, Chenddu, China. [19]The First Affiliated Hospital of Soochow University, Suzhou, Alabama, China. [20]the First Affiliated Hospital of Soochow University, Suzhou, China. [21]Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, China.
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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.Copyright © 2024 American Society of Hematology.

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大类 | 1 区 医学
小类 | 2 区 血液学
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大类 | 1 区 医学
小类 | 2 区 血液学
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Q1 HEMATOLOGY
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Q1 HEMATOLOGY

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第一作者机构: [1]Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China.
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