Deka Riju Rani, Naseem Shano, Bhatia Prateek, Binota Jogeshwar, Sonam Preeti, Rana Palak, Malhotra Pankaj, Varma Neelam
Department of Pathology, Tezpur Medical College, Tezpur, Sonitpur, Assam, India; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Clin Lymphoma Myeloma Leuk. 2022 Jun;22(6):416-423. doi: 10.1016/j.clml.2021.12.007. Epub 2021 Dec 11.
NPM1 and FLT3-ITD are frequently mutated genes in acute myeloid leukemia. We studied clinico-hematological profile and survival outcome of adult acute promyelocytic leukemia (APL) patients harboring these mutations.
De novo APL cases (> 12 years), enrolled between January 2019 and June 2020, were evaluated for FLT3-ITD and NPM1 mutations (A, B, D mutations) by conventional and real-time qualitative PCR respectively.
FLT3-ITD mutation was detected in 12 of 36 (33.3%) de novo APLs cases while NPM1 mutation was not detected. FLT3-ITD was more frequently associated with Sanz high-risk category as compared to the intermediate-risk category (75% vs. 29%, P = .02), with BCR3 transcript type (P = .08) and higher median WBC count [22.7 × 10/L)(range 1.3-184), P = .018]. One and half-years overall survival (OS) and event-free survival (EFS) were not significantly altered by the presence/absence of FLT3-ITD mutation (OS 86% vs. 70%, P = .32; EFS 86% vs. 70%, P = .33), between genders (OS, EFS both 89% in males vs. 69% in females, P = .15) and between adolescent and younger adults (AYA) (≤ 30 years) and older adult APL cases (> 30 years) (OS 86% vs. 78%, P = .55; EFS 85% vs. 77%, P = .55), however were significantly lower with BCR3 transcript as compared to BCR1 transcript (OS 56% vs. 91%, P = .019; EFS 56% vs. 91%, P = .016) in univariate analysis, although not in multivariate analysis. One and half-year OS and EFS was 57% (6/14, P = .009 for each) in high-risk APL.
FLT3-ITD mutation did not influence survival outcome in adult APL treated with ATO and ATRA-based therapeutic regimen.
NPM1和FLT3-ITD是急性髓系白血病中常见的突变基因。我们研究了携带这些突变的成人急性早幼粒细胞白血病（APL）患者的临床血液学特征和生存结局。
对2019年1月至2020年6月期间登记的初发APL病例（年龄>12岁），分别采用传统和实时定量PCR评估FLT3-ITD和NPM1突变（A、B、D突变）。
36例初发APL病例中有12例（33.3%）检测到FLT3-ITD突变，未检测到NPM1突变。与中危组相比，FLT3-ITD更常与Sanz高危组相关（75%对29%，P = 0.02），与BCR3转录本类型相关（P = 0.08），且白细胞计数中位数更高[22.7×10⁹/L（范围1.3 - 184），P = 0.018]。FLT3-ITD突变的存在与否对1.5年总生存期（OS）和无事件生存期（EFS）无显著影响（OS 86%对70%，P = 0.32；EFS 86%对70%，P = 0.33），性别之间（男性OS和EFS均为89%，女性为69%，P = 0.15）以及青少年和年轻成人（AYA）（≤30岁）与老年成人APL病例（>30岁）之间（OS 86%对78%，P = 0.55；EFS 85%对77%，P = 0.55）也无显著影响，然而在单因素分析中，与BCR1转录本相比，BCR3转录本的OS和EFS显著更低（OS 56%对91%，P = 0.019；EFS 56%对91%，P = 0.016），尽管在多因素分析中并非如此。高危APL的1.5年OS和EFS为57%（6/14，每项P = 0.009）。
在接受基于ATO和ATRA的治疗方案治疗的成人APL中，FLT3-ITD突变不影响生存结局。
