790例初诊急性早幼粒细胞白血病患者临床及遗传学特征的单中心回顾性研究

Clinical and genetic characteristics of patients with newly diagnosed acute promyelocytic leukemia:a single-center retrospective of 790 cases

目的探讨初诊急性早幼粒细胞白血病(APL)患者的临床及遗传学特征。方法纳入2004年2月至2020年6月期间于中国医学科学院血液病医院就诊的15岁及以上初诊APL患者,对其临床及实验室特征进行回顾性分析。结果共收集790例APL患者,男女比例为1.22∶1,中位年龄41(15~76)岁,以20~59岁为主。中低危组患者632例(80%),高危组患者158例(20%)。4.8%的初诊患者合并银屑病。初诊患者的WBC、PLT、HGB水平分别为2.3(0.1~176.1)×10^(9)/L、29.5(2.0~1220.8)×10^(9)/L、89(15~169)g/L。PML-RARα亚型以L型最常见,占58%。初诊患者很少出现APTT延长(10.3%)和肌酐>14 mg/L(1%)。对715例患者进行核型分析,155例(21.7%)为t(15;17)伴附加染色体异常,其中以+8(5.5%)最常见。复杂核型见于64例(9.0%)患者。对178例患者进行二代测序检测,共检出113个突变基因,发生率>1%的突变基因有75个,以FLT3(44.9%)最常见;FLT3-ITD见于20.8%的患者。结论本中心APL患者以中青年为主,男女比例未见明显差异。危险分层以中低危患者为主。少部分患者伴附加的染色体异常,以+8最常见。PML-RARα亚型以L型最常见。APL突变谱以FLT3最常见。

Objective To retrospectively analyze the data of Chinese patients with newly diagnosed acute promyelocytic leukemia(APL)to preliminarily discuss the clinical and cytogenetic characteristics.Methods From February 2004 to June 2020,patients with newly diagnosed APL aged≥15 years who were admitted to the Institute of Hematology&Blood Diseases Hospital,Chinese Academy of Medical Science&Peking Union Medical College were chosen.Clinical and laboratory features were retrospectively analyzed.Results A total of 790 cases were included,with a male to female ratio of 1.22.The median age of the patients was 41(15-76)years.Patients aged between 20 and 59 predominated,with 632 patients(80%)of 790 patients classified as low and intermediate risk and 158 patients(20%)of 790 patients classified as high risk.The white blood cell,platelet,and hemoglobin levels at diagnosis were 2.3(0.1-176.1)×10^(9)/L,29.5(2.0-1220.8)×10^(9)/L,and 89(15-169)g/L,respectively,and 4.8%of patients were complicated with psoriasis.The long-form type of PML-RARαwas most commonly seen in APL,accounting for 58%.Both APTT extension(10.3%)and creatinine>14 mg/L(1%)are rarely seen in patients at diagnosis.Cytogenetics was performed in 715 patients with newly diagnosed APL.t(15;17)with additional chromosomal abnormalities were found in 155 patients,accounting for 21.7%;among which,+8 was most frequently seen.A complex karyotype was found in 64(9.0%)patients.Nextgeneration sequencing was performed in 178 patients,and 113 mutated genes were discovered;75 genes had an incidence rate>1%.FLT3 was the most frequently seen,which accounted for 44.9%,and 20.8%of the 178 patients present with FLT3-ITD.Conclusions Patients aged 20-59 years are the most common group with newly diagnosed APL.No obvious difference was found in the ratio of males to females.In terms of risk stratification,patients divided into low and intermediate risk predominate.t(15;17)with additional chromosomal abnormalities accounted for 21%of 715 patients,in which+8 was most commonly seen.The long-form subtype was most frequently seen in PML-RARα-positive patients,and FLT3 was most commonly seen in the mutation spectrum of APL.