急性髓性白血病的细胞遗传学和基因组学

IF 2.2 4区 医学 Q3 HEMATOLOGY
Oraine Snaith , Corey Poveda-Rogers , Dorottya Laczko , Guang Yang , Jennifer J.D. Morrissette
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引用次数: 0

摘要

在急性髓性白血病(AML)中观察到的遗传和基因组异常的多样性反映了这些血液肿瘤的复杂性。细胞遗传学和分子改变的检测是急性髓细胞白血病诊断、风险分层和治疗的基础。在一些国际分类系统中,染色体重排和一些基因突变已被确定为急性髓细胞性白血病的诊断分类。此外,检测复发时的新突变图谱以及鉴定移植前后的突变也有助于了解疾病的演变,并与急性髓细胞性白血病患者的风险评估相关。在本综述中,我们将讨论复发性细胞遗传学异常,以及在正常核型和染色体异常的情况下检测复发性突变。文章介绍了世界卫生组织和国际癌症分类委员会的两种新分类方案,并从急性髓细胞性白血病的诊断标准和实体定义的角度对这些分类进行了比较。最后,我们讨论了基因组测序如何将基因突变和染色体异常的检测浓缩到一个检测项目中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cytogenetics and genomics of acute myeloid leukemia

The diversity of genetic and genomic abnormalities observed in acute myeloid leukemia (AML) reflects the complexity of these hematologic neoplasms. The detection of cytogenetic and molecular alterations is fundamental to diagnosis, risk stratification and treatment of AML. Chromosome rearrangements are well established in the diagnostic classification of AML, as are some gene mutations, in several international classification systems. Additionally, the detection of new mutational profiles at relapse and identification of mutations in the pre- and post-transplant settings are illuminating in understanding disease evolution and are relevant to the risk assessment of AML patients. In this review, we discuss recurrent cytogenetic abnormalities, as well as the detection of recurrent mutations, within the context of a normal karyotype, and in the setting of chromosome abnormalities. Two new classification schemes from the WHO and ICC are described, comparing these classifications in terms of diagnostic criteria and entity definition in AML. Finally, we discuss ways in which genomic sequencing can condense the detection of gene mutations and chromosome abnormalities into a single assay.

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来源期刊
CiteScore
4.20
自引率
0.00%
发文量
42
审稿时长
35 days
期刊介绍: Best Practice & Research Clinical Haematology publishes review articles integrating the results from the latest original research articles into practical, evidence-based review articles. These articles seek to address the key clinical issues of diagnosis, treatment and patient management. Each issue follows a problem-orientated approach which focuses on the key questions to be addressed, clearly defining what is known and not known, covering the spectrum of clinical and laboratory haematological practice and research. Although most reviews are invited, the Editor welcomes suggestions from potential authors.
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