伊拉克成人急性髓系白血病患者IDH1/2基因的分子改变及其治疗反应

Q4 Medicine
Haider Jaleel Al-Shammari, Haithem A Al-Rubaie, Ihsan Al-Badran
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引用次数: 0

摘要

背景:AML中IDH1/2基因的复发性体细胞变异在表观遗传学失调和AML的发病机制中起着重要作用,这可能是风险分层的有用预后标志物。目的:本研究旨在检测IDH1基因R132突变和IDH2基因R140Q突变的频率及其治疗效果。患者、材料和方法:采用基于高分辨率熔解(HRM)的实时PCR检测56例新诊断AML患者的IDH分子变化。结果:39.3%的AML患者出现IDH分子改变;IDH1 R132和IDH2 R140Q突变分别出现在32.1%和12.5%的患者中。突变型IDH患者的平均年龄(52±14.87岁)高于野生型(41.68±20.4岁),P=0.041。突变型IDH患者中53%为女性,而野生型患者中73.3%为男性(P=0.038)。变异型IDH的血红蛋白、中性粒细胞绝对计数和血小板计数的平均水平显著低于野生型患者(分别为P=0.015、0.03和0.01)。诱导缓解治疗后,68.2%的突变IDH和64.7%的未突变IDH患者未完全缓解(P>0.05);59.1%的突变IDH和64.7%的未突变IDH具有不良结果(P>0.05)。结论:IDH突变在伊拉克成年AML患者中很常见,并且以老年人和女性为主,Hb水平、WBC计数、绝对中性粒细胞计数、血小板计数较低,髓外受累较少。与治疗结果的相关性不显著。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Molecular alterations in IDH 1/2 genes among Iraqi adult acute myeloid leukemia patients: Their response to treatment
BACKGROUND: The recurrent somatic variations in IDH1/2 genes in AML play imperative roles in epigenetic dysregulation and the pathogenesis of AML, which could be useful prognostic markers for risk stratification. AIM: The aim of the study was to detect the frequency of R132 mutations in the IDH1 gene and R140Q mutation in the IDH2 gene with their treatment outcomes. PATIENTS, MATERIALS AND METHODS: IDH molecular alterations were detected by high-resolution-melting (HRM)-based real-time PCR assay in 56 newly diagnosed AML patients. RESULTS: IDH molecular alterations were identified in 39.3% of AML patients; IDH1 R132 and IDH2 R140Q mutations were present in 32.1% and 12.5% of patients, respectively. The mean age of patients with mutant IDH (52±14.87 years) is higher than in wild type (41.68±20.4 years), P = 0.041. Females were seen in 53% of mutant IDH patients while in the wild-type 73.3% were males (P = 0.038). There were significantly lower mean levels of hemoglobin, absolute neutrophil count, and platelet count in mutant IDH than in wild-type (P = 0.015, 0,.03 and 0.01, respectively). After induction remission therapy, 68.2% of mutated IDH and 64.7% of unmutated IDH patients didn't achieve complete remission (P > 0.05). After 6 months; 59.1% of mutated IDH and 64.7% of unmutated IDH had unfavorable outcomes (P > 0.05). CONCLUSIONS: IDH mutations are common in Iraqi adult AML patients and present in older age and females predominance with lower Hb level, WBC count, absolute neutrophil count, platelet count, and less extramedullary involvement. There is an insignificant association with treatment outcomes.
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来源期刊
Journal of Applied Hematology
Journal of Applied Hematology Medicine-Hematology
CiteScore
0.40
自引率
0.00%
发文量
34
审稿时长
24 weeks
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