Department of Hematology and Blood Banking, Faculty of Medical Sciences, Mashhad University of Medical Sciences, Mashhad, Iran.
Department of Hematology and Blood Banking, Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
J Cell Mol Med. 2022 Jul;26(13):3797-3801. doi: 10.1111/jcmm.17424. Epub 2022 Jun 12.
To evaluate the frequency and prognosis of runt-related transcription factor 1 (RUNX1) and additional sex combs like-1 (ASXL1) mutations in acute myeloid leukaemia (AML) patients in northeastern Iran. This cross-sectional study was performed on 40 patients with AML (including 35 patients with denovo AML and five patients with secondary AML) from February 2018 to February 2021. All patients were followed up for 36 months. We evaluated the frequency and survival rate of RUNX1 and ASXL1 mutations in AML patients. To detect mutations, peripheral blood samples and bone marrow aspiration were taken from all participants. One male patient (2.5%) had RUNX1 mutations and four cases (10%; 3 females vs. 1 male) had ASXL1 mutations. The survival rates of AML patients after 1, 3, 6, 9, 12, 24 and 36 months were 98%, 90%, 77%, 62%, 52%, 27% and 20%, respectively. There was a significant relationship between the occurrence of ASXL1 mutations and the survival of patients with AML (p = 0.027). Also, there was a significant relationship between the incidence of death and haemoglobin levels in patients with AML (p = 0.045). Thus, with an increase of one unit in patients' haemoglobin levels, the risk of death is reduced by 16.6%. Patients with AML had a high mortality rate, poor therapy outcome and low survival rate. ASXL1 and RUNX1 mutations are associated with a worse prognosis in patients with newly diagnosed AML. Also, we witnessed that the prevalence of ASXL1 to RUNX1 mutations was higher in northeastern Iran compared with other regions.
评估伊朗东北部急性髓系白血病（AML）患者 runt 相关转录因子 1（RUNX1）和额外的性别梳样蛋白 1（ASXL1）突变的频率和预后。这项横断面研究于 2018 年 2 月至 2021 年 2 月对 40 例 AML 患者（包括 35 例初发性 AML 和 5 例继发性 AML）进行，所有患者随访 36 个月。我们评估了 AML 患者中 RUNX1 和 ASXL1 突变的频率和生存率。为了检测突变，所有参与者均采集外周血样本和骨髓抽吸物。一名男性患者（2.5%）存在 RUNX1 突变，4 例（10%；3 例女性与 1 例男性）存在 ASXL1 突变。AML 患者在 1、3、6、9、12、24 和 36 个月时的生存率分别为 98%、90%、77%、62%、52%、27%和 20%。ASXL1 突变的发生与 AML 患者的生存有显著关系（p=0.027）。此外，AML 患者的死亡率与血红蛋白水平有显著关系（p=0.045）。因此，患者血红蛋白水平每增加一个单位，死亡风险降低 16.6%。AML 患者死亡率高、治疗效果差、生存率低。ASXL1 和 RUNX1 突变与新诊断的 AML 患者预后不良相关。此外，我们观察到，与其他地区相比，伊朗东北部 ASXL1 对 RUNX1 突变的发生率更高。
