七例伴有TLS-ERG融合基因的儿童急性白血病临床和实验研究

The clinical and laboratory study of TLS-ERG fusion gene in seven cases of children'acute leukemia

目的位于染色体16p11的 TLS 基因与位于21q22的 ERG 基因融合形成 TLS-ERG 融合基因,分析伴有 TLS-ERG 融合基因的儿童急性白血病形态学、免疫学、细胞遗传学和临床特点。方法采用巢式反转录聚合酶链反应(RT-PCR)检测 TLS-ERG 融合基因转录本,联合染色体反带核型分析和流式细胞仪免疫表型进行分析。结果 TLS-ERG 融合基因在急性髓细胞性白血病(AML)和急性淋巴细胞性白血病(ALL)中均有表达;未发现典型的 t(16;21)(p11;q22)染色体核型;行免疫分型的7例白血病患儿中,除2例外其余均有 CD_(34)表达;3例 AML 和1例 ALL 患儿分别在确诊后1～3个月内死亡,1例临床分型为标危的 ALL 患儿在持续缓解28个月接受系统正规治疗中出现复发,复发时检测 TLS-ERG融合基因由原来的持续阴性转为阳性。结论伴有 TLS-ERG 融合基因的白血病细胞发生在造血分化的较早阶段;有该基因表达的 AML 患儿病情进展快;可将其作为白血病患儿治疗过程中微小残留病灶检测的一项指标。

Objective To analyse the morphologic、immunophenotypic,cytogenetic and clinical fea- tures of TLS-ERG fusion gene in children actue leukemia.Methods The nested RT-PCR was performed to detect TLS-ERG fusion transcription.In addition,the R-binding technique for karyotype analysis and flow cytometry assay for cell surface immunophenotyping were also applied in this study.Results TLS-ERG fu- sion gene was found both in acute myeloid leukemia and acute lymphoblastic leukemia.No case hast(16;21) (p11;q22)translocation.The immunophenotypical analysis of leukemia cells showed blast cells were positive for CD34 antigen in 5 patients.Conclusion The leukemia cells with TLS-ERG fusion gene may differentiate in earlier stage;it may be a useful marker for the detection of minimal residual disease in acute leukemia.