摘要
急性早幼粒细胞白血病(acute promyelocytic leukemia, APL)是急性髓系白血病中具有独特形态学和细胞遗传学特征的一个亚型,其发生、发展的分子机制尚未阐明。维甲酸受体α(retinoic acid receptor alpha,RARα)基因重排产生新的早幼粒细胞白血病(promyelocytic leukemia,PML)-RARα融合基因是APL发生的根源,但RARα基因重排本身并不能触发整个白血病表型,继发的基因突变可能与APL的发病有关。除FMS样酪氨酸激酶3、神经母细胞瘤RAS病毒癌基因同源物和鼠类肉瘤病毒癌基因等一些重现性的基因突变外,DNA甲基转移酶3A、甲基胞嘧啶双加氧酶2等急性髓系白血病常见的基因突变在APL患者中很少被检测到。因此,APL有其特定的分子突变谱。本文就APL的分子基础、典型PML-RARα融合基因、非典型PML-RARα融合基因、APL变异易位、APL的基因突变以及APL微小残留病灶分子检测方法的研究进展作一综述。
Acute promyelocytic leukemia(APL) is a subtype of acute myeloid leukemia, and it has unique morphological and cytogenetic characteristics. The molecular mechanism of the occurrence and development of APL has not been defined. Retinoic acid receptor alpha(RARα) gene rearrangement produces a new fusion gene promyelocytic leukemia(PML)-RARα, which is the cause of the occurrence of APL. However, only RARα gene rearrangement is not able to trigger the whole leukemia phenotype, and the secondary gene mutation may be correlated with the pathogenesis of APL. Some recurrent gene mutations such as FMS like tyrosine kinase 3, neuroblastoma RAS viral oncogene homolog and kirsten rat sarcoma viral oncogene can be detected in APL patients, while other common gene mutations such as DNA methyltransferases 3 A and tet methylcytosine dioxygenase 2 in acute myeloid leukemia have rarely been detected, so APL has its specific molecular mutation spectrum. This paper reviews the research progress of the molecular basis of APL, typical PML-RARα fusion gene, atypical PML-RARα fusion gene, APL variant translocation, APL gene mutation and molecular detection methods of minimal residual disease of APL.
作者
邬成业
朱尊民
WU Cheng-ye;ZHU Zun-min(Institute of Hematology,Henan Prouincial People's Hospital,Henan Key Laboratory for Hemato pathology,Henan Key Laboratory of Stem Cell Differentiation and Modification,Zhengzhou University People's Hospital,Henan University People's Hospital,Zhengzhou,Henan 450003,China)
出处
《中华实用诊断与治疗杂志》
2021年第5期534-537,共4页
Journal of Chinese Practical Diagnosis and Therapy
基金
河南省医学科技攻关计划省部共建项目(SB201901094)。