混合表型急性白血病的细胞及分子遗传学研究进展

doi:10.13523/j.cb.20190912

中国生物工程杂志

2019, Vol. 39

Issue (9): 91-97 DOI: 10.13523/j.cb.20190912

综述

混合表型急性白血病的细胞及分子遗传学研究进展

王谦,陈苏宁(

)

苏州大学附属第一医院江苏省血液研究所苏州 215006

The Genetics of Mixed-phenotype Acute Leukemia

WANG Qian,CHEN Su-ning(

)

The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Suzhou 215006, China

全文: PDF(385 KB) HTML

摘要：

混合表型急性白血病(mixed-phenotype acute leukemia, MPAL)是一类同时表达不止一个谱系特异性抗原的恶性克隆性疾病,发生率低,仅占急性白血病的2%~5%。多数MPAL患者可检测出克隆性染色体异常及分子遗传学改变,其中一些特异性异常如t(9;22)(q34;q11)及KMT2A重排在MPAL的诊断分型、靶向治疗及预后判断中具有重要的指导意义。近年来,随着全基因组测序、全外显子测序、靶向测序及单核苷酸多态性-微阵列比较基因组杂交等分子生物学技术的广泛应用,人们发现一些新的分子遗传学异常如ZNF384重排及WT1基因突变等也与疾病的发生发展及预后密切相关。这些发现进一步丰富了对MPAL发病机制的认识。现将有关MPAL细胞及分子遗传学的研究进展进行综述。

关键词： 混合表型急性白血病; 染色体易位; 基因突变

Abstract:

Mixed-phenotype acute leukemia (MPAL) is a rare type of acute leukemia, in which the blasts express lineage specific antigens of more than 1 lineage. The incidence of MPAL comprises 2% to 5% of all cases of acute leukemia. Clonal chromosomal abnormalities can be detected in about 59% to 91% of MPAL patients, such as t(9;22)(q34;q11)/BCR-ABL1 and t(v;11q23)/KMT2A-rearrangment, which play a prominent role in the diagnosis and prognosis of these disorders. More recently, molecular approaches have been useful in further characterizing this group of diseases, such as whole genome sequencing, whole exome sequencing and next generation sequencing. ZNF384 fusions are common in B/My MPAL and WT1 mutations are common in T/My MPAL, which provide potential biological insights and may have clinical implications for this disease. This review aims to provide a brief overview of the recent advances in MPAL genetics.

Key words: Mixed-phenotype acute leukemia Chromosomal translocation Gene mutation

收稿日期: 2019-08-19 出版日期: 2019-09-20

ZTFLH:

Q343

通讯作者: 陈苏宁 E-mail: chensuning@sina.com

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引用本文:

王谦,陈苏宁. 混合表型急性白血病的细胞及分子遗传学研究进展[J]. 中国生物工程杂志, 2019, 39(9): 91-97.

WANG Qian,CHEN Su-ning. The Genetics of Mixed-phenotype Acute Leukemia. China Biotechnology, 2019, 39(9): 91-97.

链接本文:

https://manu60.magtech.com.cn/biotech/CN/10.13523/j.cb.20190912 或 https://manu60.magtech.com.cn/biotech/CN/Y2019/V39/I9/91

表1 诊断BAL的EGIL评分系统

表2 2008/2016 WHO分类关于MPAL的系列和诊断标准

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