Abstract：
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.
摘要：
在急性髓细胞性白血病（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诊断的基础，AML的风险分层和治疗。染色体重排在AML的诊断分类中得到了很好的确立，一些基因突变，在几个国际分类系统中。此外,在复发时检测到新的突变谱以及在移植前和移植后环境中识别突变对了解疾病演变具有启发性,并且与AML患者的风险评估相关.在这次审查中,我们讨论复发性细胞遗传学异常，以及对复发突变的检测，在正常核型的背景下，在染色体异常的背景下。描述了世卫组织和国际商会的两种新分类方案，在AML的诊断标准和实体定义方面比较这些分类。最后,我们讨论了基因组测序可以将基因突变和染色体异常的检测浓缩为单一检测的方法。
