多重RT-PCR技术联合染色体核型分析在儿童急性淋巴细胞白血病诊断分型中的应用

目的　研究多重逆转录 聚合酶链反应 (RT PCR)技术联合染色体核型分析在急性淋巴细胞白血病 (ALL)诊断分型中的价值。方法　采用多重RT PCR技术 ,染色体R或G显带技术对 5 0例儿童ALL进行分析。结果　 5 0例ALL患儿中 18例 (36 .0 % )分别具有 11种融合基因 ,包括E2A/PBX1、TEL/AML1、TLS/ERG、MLL/AF4、MLL/AF9、MLL/AF10、MLL/AFX、MLL/AF6、MLL/ELL、TAL1D、HOX11。在接受染色体检查的 4 8例ALL患儿中 ,染色体异常有 2 4例 (5 7.1% ) ,其中染色体数目和缺失异常为 18例 ,染色体易位 6例。多重RT PCR和核型分析联合使ALL的遗传学异常检出率增至 70 % (5 0例中 35例 )。结论　多重RT PCR和染色体核型分析两种方法相结合 ,可以相互补充 ,从而提高了ALL患儿遗传学异常的检出率 ,为儿童ALL的诊断、分型和预后判断提供可靠依据。

A combined assay of multiplex RT-PCR and karyotypic analysis in childhood acute lymphoblastic leukemia

Objective To study the value of combination assay of multiplex RT PCR and karyotypic analysis in the diagnosis and classification of childhood acute lymphoblastic leukemia(ALL). Methods Fifty cases of childhood ALL patients were studied by multiplex RT PCR in combination with R or G banding karyotype analysis. Results Of the 50 childhood ALL patients,18 (36.0%) carried 11 types of fusion genes including E2A/PBX1,TEL/AML1,TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX, MLL/AF6, MLL/ELL,TAL1D, and HOX11, revealed by multiplex RT PCR, and in 48 cases, 24(57.1%) had chromosome abnormalities. Among the latter, numeral chromosome abnormalities and chromosome deletions accounted for 75.0%(18/24), while translocations 25.0%(6/24). The multiplex RT PCR in combination with chromosome analysis could detect genetic abnormalities in 70%(35/50) of childhood ALL. Conclusions Multiplex RT PCR combined with chromosome analysis can enhance the detection rate of genetic abnormalities in childhood ALL. It provides reliable evidence for the diagnosis, classification and prognosis.