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目的了解儿童急性髓细胞性白血病(AML)染色体及相关融合基因的变化。方法155例AML患儿采用直接法及24h培养法制备染色体,套式逆转录聚合酶链反应(RT-PCR)检测t(8;21)易位的AML1-ETO融合基因,t(15;17)易位的PML-RARα融合基因。LSI-FISH检测MLL融合基因。结果155例AML中,异常核型101例(65·2%),各亚型的异常率为:M577·3%,M365·9%,M263·9%,M462·5%,M660·0%,M142·9%。最常见的数目异常为假二倍体59例(58·4%),最常见的结构异常为t(8;21)31例(32·7%),t(15;17)27例(26·7%),11号染色体异常10例(9·9%),并与M2、M3、M5相关。RT-PCR检测M2、M3相关的融合基因AML1-ETO及PML-RARα均发现了隐匿易位及变异异位,FISH检测11例AML患儿中的MLL基因3例阳性。结论儿童AML进行染色体分析及融合基因的检测,有助于AML诊断及亚型之间的鉴别诊断。
Objective To investigate the changes of chromosomal and related fusion genes in childhood acute myeloid leukemia (AML). Methods AML1-ETO fusion gene of t (8; 21) translocation was detected by reverse transcription polymerase chain reaction (RT-PCR) in 155 children with AML using direct method and 24h culture method. ) Translocation of the PML-RARα fusion gene. LSI-FISH detection MLL fusion gene. Results Among the 155 AML cases, 101 (65.2%) had abnormal karyotypes. The abnormal rates of each subtype were M577.3%, M365.9%, M263.9%, M462.5%, M660.0% , M142.9%. The most common anomaly was false diploid in 59 cases (58.4%). The most common structural abnormalities were t (8; 21) in 31 cases (32.7%), t (15; 17) in 27 cases · 7%), chromosome 11 abnormalities in 10 cases (9 · 9%), and with M2, M3, M5 related. RT-PCR detection of M2, M3-related fusion gene AML1-ETO and PML-RARα were found occult translocation and variant ectopic FISH detected 11 cases of AML in children with MLL gene 3 cases were positive. Conclusion Chromosome analysis and fusion gene detection in children with AML are helpful for the diagnosis of AML and the differential diagnosis between subtypes.