Gonzales Patrick R, Mikhail Fady M
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35294, USA.
Curr Hematol Malig Rep. 2017 Dec;12(6):568-573. doi: 10.1007/s11899-017-0426-6.
Acute myeloid leukemia (AML) is a hematologic neoplasia consisting of incompletely differentiated hematopoietic cells of the myeloid lineage that proliferate in the bone marrow, blood, and/or other tissues. Clinical implementation of fluorescence in situ hybridization (FISH) in cytogenetic laboratories allows for high-resolution analysis of recurrent structural chromosomal rearrangements specific to AML, especially in AML with normal karyotypes, which comprises approximately 33-50% of AML-positive specimens. Here, we review the use of several FISH probe strategies in the diagnosis of AML. We also review the standards and guidelines currently in place for use by clinical cytogenetic laboratories in the evaluation of AML.
Updated standards and guidelines from the WHO, ACMG, and NCCN have further defined clinically significant, recurring cytogenetic anomalies in AML that are detectable by FISH. FISH continues to be a powerful technique in the diagnosis of AML, with higher resolution than conventional cytogenetic analysis, rapid turnaround time, and a considerable diagnostic and prognostic utility.
急性髓系白血病（AML）是一种血液系统肿瘤，由骨髓系未完全分化的造血细胞组成，这些细胞在骨髓、血液和/或其他组织中增殖。细胞遗传学实验室中荧光原位杂交（FISH）的临床应用能够对AML特有的复发性染色体结构重排进行高分辨率分析，尤其是在核型正常的AML中，这类AML约占AML阳性标本的33%-50%。在此，我们综述几种FISH探针策略在AML诊断中的应用。我们还综述了临床细胞遗传学实验室目前在AML评估中使用的标准和指南。
世界卫生组织（WHO）、美国医学遗传学与基因组学学会（ACMG）和美国国立综合癌症网络（NCCN）更新的标准和指南进一步明确了AML中可通过FISH检测到的具有临床意义的复发性细胞遗传学异常。FISH在AML诊断中仍然是一项强大的技术，其分辨率高于传统细胞遗传学分析，周转时间快，具有相当大的诊断和预后价值。
