| Popis: |
To analyze the diagnostic value of multiple reverse transcription-polymerase chain reaction (RT-PCR) for detecting different fusion genes in children with primary acute lymphoblastic leukemia (ALL).The clinical data of 80 children with ALL treated in the 2Immunophenotyping showed that there were 2 cases of mixed expression of myeloid + B system, 2 cases with pre- B expression, 58 cases with former B expression, 11 cases with CD13 combined with pre- B expression, 4 cases with CD5 combined with pre- B expression, and 3 cases with CD2 combined with pre- B expression. The results of chromosome karyotype analysis showed that among 72 cases of karyotype analysts 5 cases could not be analyzed, 27 cases were determined to be normal karyotype, 11 cases with abnormal karyotype and 29 cases without mitotic phase. Six fusion genes were expressed in 30 cases (37.50%) of 80 ALL children, including MLL/AF9, CBF/MYH 11, BCR/ABL, TLS/ERG, MLL/ENL and TEL/AML1. Among the 3 cases with MLL/AF9 fusion gene expression [t(9;11)], 2 cases showed a poor response to early treatment, but achieved complete remission after intensive chemotherapy, and 1 case accepted bone marrow transplantation; in 1 case with CBF/MYH 11 fusion gene expression, treatment was abandoned by family members, and 4 cases with BCR/ABL fusion gene expression [t (9;22) (q34; q11)] were all showed poor response to early treatment, and achieved complete remission after intensive chemotherapy. All the fusion genes were positive during remission, including 2 cases of bone marrow transplantation; 1 case with TLS/ERG fusion gene expression [t (16;21)] displayed poor response to early treatment, and completely remitted after intensive chemotherapy; 2 cases with MLL/ENL fusion gene expression [t (11;19)] recurred during chemotherapy; 19 cases with TEL/AML1 fusion gene expression [t (12;21)] also achieved complete remission. 4 cases achieved a partial remission.Genotyping can make up for the insufficiency of MICM typing, and multiplex RT-PCR can be used to rapidly detect the fusion genes caused by chromosomal aberration in children with ALL.多重RT-PCR在初发急性淋巴细胞白血病患儿中检测不同融合基因的诊断价值.分析多重逆转录-聚合酶链反应（RT-PCR）对初发急性淋巴细胞白血病（ALL）患儿检测不同融合基因的诊断价值.回顾性分析西安医学院第二附属医院2012年9月至2017年9月收治的80例ALL患儿的临床资料，对患儿进行免疫表型、染色体核型及融合基因分析.免疫表型结果显示，髓系+B系混合表达2例，早期B表达2例，前B表达58例，CD13合并前B表达11例，CD5合并前B表达4例，CD2合并前B表达3例。染色体核型分析结果显示，72例行染色体核型分析的患者，其中无法分析5例，染色体核型正常27例，异常11例，无分裂相29例。80例ALL患儿中，共有30例（37.50%）存在6种融合基因表达，分别为MLL/AF9、CBF/MYH 11、BCR/ABL、TLS/ERG、MLL/ENL及TEL/AML1。3例MLL/AF9融合基因表达[t (9; 11) ]患儿中2例早期治疗反应不良而经过加强化疗后获得完全缓解，1例行骨髓移植；1例CBF/MYH 11融合基因表达患儿家属放弃治疗；4例BCR/ABL融合基因表达[t (9; 22) (q34; q11) ]患儿均为早期治疗反应不良，经加强化疗后获得完全缓解，缓解期间复查该融合基因均为阳性，其中行骨髓移植2例；1例TLS/ERG融合基因表达[t (16; 21) ]患儿为早期治疗反应不良，经加强化疗后获得完全缓解；2例MLL/ENL融合基因表达[t (11; 19) ]患儿化疗过程中均复发；19例TEL/AML1融合基因表达[t (12; 21) ]患儿中获得完全缓解15例，部分缓解4例.基因分型可弥补白血病常规分型—MICM分型的不足，通过多重RT-PCR方法可迅速测定ALL患儿染色体畸变所引起的融合基因. |
