Lin Dong, Liu Shi-he, Zhu Xiao-fan, Bo Li-jin, Li Cheng-wen, Chen Yu-mei, Liu Xu-ping, Qin Shuang, Dai Yun, Wang Jian-xiang
Institute of Hematology and Blood Diseases Hospital, CAMS and PUMC, Tianjin 300020, China.
Zhonghua Xue Ye Xue Za Zhi. 2004 Jan;25(1):17-21.
To explore the incidence, clinical characteristics and prognosis of childhood acute lymphoblastic leukemia (ALL) with t(12;21).
t(12;21)/TEL-AML1 fusion gene was examined in bone marrow or peripheral blood mononuclear cells from 51 newly diagnosed childhood ALL patients by conventional cytogenetic R-banding analysis (CCA), dual colour interphase fluorescence in situ hybridization (I-FISH), and nested reverse transcriptase-polymerase chain reaction (RT-PCR).
t(12; 21)/TEL-AML1 fusion gene was found in 11 cases by FISH or PCR, accounting for 21.6% and 26.9% in childhood ALLs and in non-T lineage ALL cases, respectively. The median age at diagnosis was 6.8 (2.9 to 12) years. All of the t(12;21) patients expressed non-T lineage immunophenotype, and most of them were common-ALL. High myeloid antigen coexpression was not found. In 11 CCA cases, normal karyotype was found in 7, and a dubious t(12;21) in one. TEL allele deletion was found in 8 (72.7%) of t(12;21) positive cases by FISH. By comparison, no statistic difference was found in sex, anemia, hemorrhage, organ enlargement, and initial WBC count between the positive and negative non-T lineage ALLs, but the platelet count and the frequency of IgH gene rearrangement were much lower in positive cases (P = 0.008 and 0.007, respectively). Moreover, no difference was found in overall CR rate, CR rate within 4 weeks, CR duration and relapse rate between the two groups.
t(12;21) was the most common chromosomal translocation in childhood ALL, but not all of them could be detected by CCA. t(12;21) cases showed non-T cell immunotypes, most of them were CD(10)(+) ALL. TEL allele deletion was common in these cases. There was no significant difference in clinical characteristics and short term outcome between the t(12;21) and the TEL-AML1 negative cases. In our data, Chinese t(12;21) ALL showed older in age, lower BPC, lower IgH rearrangement frequency and more of normal karyotype as compared with the reports abroad.
探讨儿童急性淋巴细胞白血病(ALL)伴t(12;21)的发病率、临床特征及预后。
采用常规细胞遗传学R显带分析(CCA)、双色间期荧光原位杂交(I-FISH)及巢式逆转录聚合酶链反应(RT-PCR)检测51例新诊断儿童ALL患者骨髓或外周血单个核细胞中的t(12;21)/TEL-AML1融合基因。
通过FISH或PCR在11例患者中发现t(12;21)/TEL-AML1融合基因,在儿童ALL及非T系ALL病例中分别占21.6%和26.9%。诊断时的中位年龄为6.8(2.9至12)岁。所有t(12;21)患者均表达非T系免疫表型,且大多数为普通型ALL。未发现高髓系抗原共表达。在11例CCA病例中,7例核型正常,1例为可疑t(12;21)。通过FISH在8例(72.7%)t(12;21)阳性病例中发现TEL等位基因缺失。相比之下,非T系ALL阳性和阴性病例在性别、贫血、出血、器官肿大及初始白细胞计数方面无统计学差异,但阳性病例的血小板计数及IgH基因重排频率更低(P分别为0.008和0.007)。此外,两组在总缓解率、4周内缓解率、缓解持续时间及复发率方面无差异。
t(12;21)是儿童ALL中最常见的染色体易位,但并非所有病例都能通过CCA检测到。t(12;21)病例表现为非T细胞免疫表型,大多数为CD(10)(+)ALL。TEL等位基因缺失在这些病例中常见。t(12;21)与TEL-AML1阴性病例在临床特征及短期预后方面无显著差异。在我们的数据中,与国外报道相比,中国t(12;21)ALL患者年龄更大,血小板计数更低,IgH重排频率更低,核型正常的更多。