{"title":"Runt 相关转录因子 1 基因突变的急性髓性白血病患者的临床特征和预后:单中心回顾性分析","authors":"Lin-Ya Wang, Yao Li, Qian Jiang, Hao Jiang, Yu Wang, Lan-Ping Xu, Xiao-Hui Zhang, Kai-Yan Liu, Fei-Fei Tang","doi":"10.1002/hon.3256","DOIUrl":null,"url":null,"abstract":"<p>This study aimed to investigate the clinical characteristics and prognosis of Runt-related transcription factor 1 (RUNX1) mutant acute myeloid leukemia (AML) patients by comparing the features of AML patients with or without RUNX1 mutation. We retrospectively analyzed 180 AML patients including 36 AML patients with mutant RUNX1(AML-RUNX1<sup>mut</sup>) and 144 AML patients with wild-type RUNX1(AML-RUNX1<sup>wt</sup>) were selected using the case-pair method(1:4). Compared to AML-RUNX1<sup>wt</sup>, AML-RUNX1<sup>mut</sup> showed higher frequency of ASXL1 (<i>p</i> < 0.001), SRSF2 (<i>p</i> < 0.001), BCORL1 (<i>p</i> < 0.001), RAS (<i>p</i> = 0.010) mutations, and absent NPM1 mutations (<i>p</i> = 0.022). The 3-year overall survival (OS) and disease-free survival (DFS) of AML-RUNX1<sup>mut</sup> and AML-RUNX1<sup>wt</sup> were 73.1% versus 68.0% (<i>p</i> = 0.64) and 80.7% versus 71.6% (<i>p</i> = 0.37), respectively. AML-RUNX1<sup>mut</sup> receiving allogeneic hematopoietic cell transplantation (allo-HSCT) showed better survival than those who did not receive allo-HSCT (3-year OS, 84.3% vs. 52.7%; <i>p</i> = 0.006). Multivariate analysis showed that EZH2 mutation (<i>p</i> = 0.003), white blood cell (WBC) ≥30 × 10<sup>9</sup>/L (<i>p</i> = 0.036) and age ≥60 years (<i>p</i> = 0.038) were significant independent risk factors for inferior OS of AML-RUNX1<sup>mut</sup>; WBC ≥30 × 10<sup>9</sup>/L (<i>p</i> = 0.013) and DNMT3A mutation (<i>p</i> = 0.045) were significant independent risk factors for shorter DFS of AML-RUNX1<sup>mut</sup>. In conclusion, AML-RUNX1<sup>mut</sup> showed unique clinical characteristics, but the survival between AML-RUNX1<sup>mut</sup> and AML-RUNX1<sup>wt</sup> were comparable. EZH2 co-mutation, DNMT3A co-mutation, old age and high WBC count were associated with inferior survival of AML-RUNX1<sup>mut</sup>. Allo-HSCT can significantly improve the prognosis of AML-RUNX1<sup>mut</sup>.</p>","PeriodicalId":12882,"journal":{"name":"Hematological Oncology","volume":"42 2","pages":""},"PeriodicalIF":3.3000,"publicationDate":"2024-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical characteristics and prognosis of acute myeloid leukemia patients with Runt-related transcription factor 1 mutation: A single-center retrospective analysis\",\"authors\":\"Lin-Ya Wang, Yao Li, Qian Jiang, Hao Jiang, Yu Wang, Lan-Ping Xu, Xiao-Hui Zhang, Kai-Yan Liu, Fei-Fei Tang\",\"doi\":\"10.1002/hon.3256\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>This study aimed to investigate the clinical characteristics and prognosis of Runt-related transcription factor 1 (RUNX1) mutant acute myeloid leukemia (AML) patients by comparing the features of AML patients with or without RUNX1 mutation. We retrospectively analyzed 180 AML patients including 36 AML patients with mutant RUNX1(AML-RUNX1<sup>mut</sup>) and 144 AML patients with wild-type RUNX1(AML-RUNX1<sup>wt</sup>) were selected using the case-pair method(1:4). Compared to AML-RUNX1<sup>wt</sup>, AML-RUNX1<sup>mut</sup> showed higher frequency of ASXL1 (<i>p</i> < 0.001), SRSF2 (<i>p</i> < 0.001), BCORL1 (<i>p</i> < 0.001), RAS (<i>p</i> = 0.010) mutations, and absent NPM1 mutations (<i>p</i> = 0.022). The 3-year overall survival (OS) and disease-free survival (DFS) of AML-RUNX1<sup>mut</sup> and AML-RUNX1<sup>wt</sup> were 73.1% versus 68.0% (<i>p</i> = 0.64) and 80.7% versus 71.6% (<i>p</i> = 0.37), respectively. AML-RUNX1<sup>mut</sup> receiving allogeneic hematopoietic cell transplantation (allo-HSCT) showed better survival than those who did not receive allo-HSCT (3-year OS, 84.3% vs. 52.7%; <i>p</i> = 0.006). Multivariate analysis showed that EZH2 mutation (<i>p</i> = 0.003), white blood cell (WBC) ≥30 × 10<sup>9</sup>/L (<i>p</i> = 0.036) and age ≥60 years (<i>p</i> = 0.038) were significant independent risk factors for inferior OS of AML-RUNX1<sup>mut</sup>; WBC ≥30 × 10<sup>9</sup>/L (<i>p</i> = 0.013) and DNMT3A mutation (<i>p</i> = 0.045) were significant independent risk factors for shorter DFS of AML-RUNX1<sup>mut</sup>. In conclusion, AML-RUNX1<sup>mut</sup> showed unique clinical characteristics, but the survival between AML-RUNX1<sup>mut</sup> and AML-RUNX1<sup>wt</sup> were comparable. EZH2 co-mutation, DNMT3A co-mutation, old age and high WBC count were associated with inferior survival of AML-RUNX1<sup>mut</sup>. Allo-HSCT can significantly improve the prognosis of AML-RUNX1<sup>mut</sup>.</p>\",\"PeriodicalId\":12882,\"journal\":{\"name\":\"Hematological Oncology\",\"volume\":\"42 2\",\"pages\":\"\"},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2024-02-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hematological Oncology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/hon.3256\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hematological Oncology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/hon.3256","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Clinical characteristics and prognosis of acute myeloid leukemia patients with Runt-related transcription factor 1 mutation: A single-center retrospective analysis
This study aimed to investigate the clinical characteristics and prognosis of Runt-related transcription factor 1 (RUNX1) mutant acute myeloid leukemia (AML) patients by comparing the features of AML patients with or without RUNX1 mutation. We retrospectively analyzed 180 AML patients including 36 AML patients with mutant RUNX1(AML-RUNX1mut) and 144 AML patients with wild-type RUNX1(AML-RUNX1wt) were selected using the case-pair method(1:4). Compared to AML-RUNX1wt, AML-RUNX1mut showed higher frequency of ASXL1 (p < 0.001), SRSF2 (p < 0.001), BCORL1 (p < 0.001), RAS (p = 0.010) mutations, and absent NPM1 mutations (p = 0.022). The 3-year overall survival (OS) and disease-free survival (DFS) of AML-RUNX1mut and AML-RUNX1wt were 73.1% versus 68.0% (p = 0.64) and 80.7% versus 71.6% (p = 0.37), respectively. AML-RUNX1mut receiving allogeneic hematopoietic cell transplantation (allo-HSCT) showed better survival than those who did not receive allo-HSCT (3-year OS, 84.3% vs. 52.7%; p = 0.006). Multivariate analysis showed that EZH2 mutation (p = 0.003), white blood cell (WBC) ≥30 × 109/L (p = 0.036) and age ≥60 years (p = 0.038) were significant independent risk factors for inferior OS of AML-RUNX1mut; WBC ≥30 × 109/L (p = 0.013) and DNMT3A mutation (p = 0.045) were significant independent risk factors for shorter DFS of AML-RUNX1mut. In conclusion, AML-RUNX1mut showed unique clinical characteristics, but the survival between AML-RUNX1mut and AML-RUNX1wt were comparable. EZH2 co-mutation, DNMT3A co-mutation, old age and high WBC count were associated with inferior survival of AML-RUNX1mut. Allo-HSCT can significantly improve the prognosis of AML-RUNX1mut.
期刊介绍:
Hematological Oncology considers for publication articles dealing with experimental and clinical aspects of neoplastic diseases of the hemopoietic and lymphoid systems and relevant related matters. Translational studies applying basic science to clinical issues are particularly welcomed. Manuscripts dealing with the following areas are encouraged:
-Clinical practice and management of hematological neoplasia, including: acute and chronic leukemias, malignant lymphomas, myeloproliferative disorders
-Diagnostic investigations, including imaging and laboratory assays
-Epidemiology, pathology and pathobiology of hematological neoplasia of hematological diseases
-Therapeutic issues including Phase 1, 2 or 3 trials as well as allogeneic and autologous stem cell transplantation studies
-Aspects of the cell biology, molecular biology, molecular genetics and cytogenetics of normal or diseased hematopoeisis and lymphopoiesis, including stem cells and cytokines and other regulatory systems.
Concise, topical review material is welcomed, especially if it makes new concepts and ideas accessible to a wider community. Proposals for review material may be discussed with the Editor-in-Chief. Collections of case material and case reports will be considered only if they have broader scientific or clinical relevance.