Objective: To investigate the application values of immunophenotypic analysis and molecular genetics in the diagnosis of acute promyelocytic leukemia (APL) . Methods: The retrospective analyses of flow cytometric (FCM) immunophenotypic anyalysis, chromosome karyotype and chromosome fluorescence in situ hybridization (FISH) of 798 outpatient or hospitalization APL patients referred to our hospital between May 2012 and December 2017 were performed to further study the application values of FCM and molecular genetics in the diagnosis of APL. Results: The sensitivity and specificity of FCM were 91.9% and 98.7% respectively. The typical characteristic immunophenotype for APL was as of follows: a high SSC, absence of expression of cluster differntiation (CD) CD34 and HLA-DR, and expression or stronger expression of CD33, consistent expression of CD13, CD9, CD123, expression of CD56, CD7, CD2 (sometimes) . The rest 10% of the cases harbored atypical APL phenotypes, generally accompanied by CD34 and/or HLA-DR expression, decreased SSC and often accompanied by CD2 expression, it was difficult to definitively diagnose APL by this FCM phenotype, and their diagnoses depended on the results of genetics or molecular biology tests. Compared with normal individuals, complex karyotypes APL with t (15;17) translocation, other variant translocations and variant t (11;17) , t (5;17) had no significant differences in terms of their FCM phenotypes. Conclusions: FCM could rapidly and effectively diagnose APL. Despite the fact that complex karyotypes with various additional chromosomal abnormalities were detected in approximately one third of APL cases in addition to the pathognomonic t (15;17) (q22;q21) , they had no observable impact on the overall immunophenotype. Molecular and genetic criteria were the golden criteria for the diagnosis of APL. About 10% of immunophenotyping cases relied on molecular genetics for diagnosis.
目的： 研究免疫表型分析及分子遗传学在急性早幼粒细胞白血病（APL）诊断中的应用价值。 方法： 对2012年5月-2017年12月门诊或住院的798例APL患者的流式细胞术（FCM）免疫分型、染色体核型及染色体荧光原位杂交（FISH）进行回顾性分析，并深入研究FCM免疫表型及分子遗传学在APL诊断中的应用价值。 结果： FCM诊断APL敏感性为91.9%，特异性为98.7%。APL具有独特免疫表型特点：典型APL的表型为侧向（SSC）偏大，CD34和HLA-DR表达缺失，表达或强表达CD33，均一表达CD13、CD9、CD123，可伴有CD56、CD7、CD2的表达。约10%的患者为非典型APL表型，一般伴有CD34和（或）HLA-DR表达，SSC减小，经常伴有CD2表达，而FCM免疫分型很难明确诊断为APL，需要依赖遗传学或者分子生物学检查结果。约1/3的患者除存在t（15;17）（q22;q21）外，还存在额外染色体异常；伴有t（15；17）的复杂核型、变异易位或者t（11;17）、t（5;17）等变异型的APL，FCM表型与单纯t（15；17）APL差异无统计学意义（P>0.05）。 结论： FCM能够快速诊断APL，伴有额外染色体异常患者和单纯t（15；17）患者FCM免疫表型没有明显差异。遗传学是诊断APL的金标准，免疫分型中约10%的患者依赖于分子遗传学来确诊。.
Keywords: Chromosome karyotype; Flow cytometry; Fluorescence in situ hybridization; Leukemia, promyelocytic, acute.