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急性髓系白血病中的 8 三体。

Trisomy 8 in acute myeloid leukemia.

机构信息

Division for Hematology, Department of Medicine, Haukeland University Hospital, Bergen, Norway.

Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.

出版信息

Expert Rev Hematol. 2019 Nov;12(11):947-958. doi: 10.1080/17474086.2019.1657400. Epub 2019 Sep 26.

DOI:10.1080/17474086.2019.1657400
PMID:31422708
Abstract

: Trisomy 8 is one of the most common cytogenetic alterations in acute myeloid leukemia (AML), with a frequency between 10% and 15%.: The authors summarize the latest research regarding biological, translational and clinical aspects of trisomy 8 in AML.: Trisomy 8 can be found together with other karyotypes, although it also occurs as a sole aberration. The last decade's research has brought attention to molecular genetic alterations as strong contributors of leukemogenesis. AML with trisomy 8 seems to be associated with mutations in DNA methylation genes, spliceosome complex genes, and myeloid transcription factor genes, and these alterations probably have stronger implication for leukemic pathogenesis, treatment and hence prognosis, than the existence of trisomy 8 itself. Especially mutations in the and genes occur in high frequencies, and search for such mutations should be mandatory part of the diagnostic workup. AML with trisomy 8 is classified as intermediate-risk AML after recent European Leukemia Net (ELN) classification, and hence allogenic hematopoietic stem cell transplantation (Allo-HSCT) should be consider as consolidation therapy for this patient group.Trisomy 8 is frequently occurring in AML, although future molecular genetic workup should be performed, to optimize the diagnosis and treatment of these patients.

摘要

三体 8 是急性髓系白血病 (AML) 中最常见的细胞遗传学改变之一,频率在 10%到 15%之间。作者总结了关于 AML 中三体 8 的生物学、转化和临床方面的最新研究。三体 8 可与其他核型一起存在,尽管它也作为单一异常存在。过去十年的研究引起了人们对作为白血病发生主要因素的分子遗传改变的关注。具有三体 8 的 AML 似乎与 DNA 甲基化基因、剪接体复合物基因和髓系转录因子基因的突变有关,这些改变可能比三体 8 本身的存在对白血病发病机制、治疗甚至预后有更强的影响。特别是 和 基因的突变发生频率很高,因此在诊断工作中应该强制性地寻找这些突变。根据最近的欧洲白血病网络 (ELN) 分类,具有三体 8 的 AML 被归类为中危 AML,因此对于这组患者,异体造血干细胞移植 (Allo-HSCT) 应被视为巩固治疗。三体 8 在 AML 中经常发生,尽管需要进行未来的分子遗传学检查,以优化这些患者的诊断和治疗。

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