Liu Shihe, Bo Lijin, Liu Xuping, Li Chengwen, Qin Shuang, Wang Jianxiang
Laboratory of Genetics, Institute of Hematology, Chinese Academy of Medical Sciences, 288 Nanjing Road, Tianjin, 300020 People's Republic of China.
Cancer Genet Cytogenet. 2004 Jul 15;152(2):141-5. doi: 10.1016/j.cancergencyto.2003.11.008.
Translocation (14;14)(q11;q32) or inv(14)(q11q32) is a common cytogenetic aberration in T-cell leukemia associated with ataxia-telangiectasia (AT); however, rare reports have indicated that this abnormality also occurs in B-lineage acute lymphoblastic leukemia (ALL). We report here two cases with common-type ALL exhibiting the chromosomal aberration t(14;14)(q11;q32). The immunophenotype showed the blasts were positive for CD9, CD10, CD38, CD22, and CD15 in case 1 and positive for CD2, CD9, CD10, CD19, CD38, CD20, and CD22 in case 2, but negative for CD3, CD4, and CD8 expression in both cases. The cytogenetic analysis revealed del(6)(q22), and t(14;14)(q11;q32) in case 1 and t(14;14)(q11;q32),+mar in case 2. Fluorescence in situ hybridization (FISH) and sequential R-banding FISH assay with dual-color break-apart IGH probe confirmed that t(14;14)(q11;q32) involved the IGH gene in our cases. The results indicate that the t(14;14)(q11;q32) involving IGH at 14q32 in B-lineage ALL in our cases differ from those reported to involve the TCL1 gene on 14q32.1 in T-cell leukemia associated with AT. Sequential R-banding and FISH provide precise analysis of alterations of chromosomes and genes involved.
易位(14;14)(q11;q32)或inv(14)(q11q32)是与共济失调毛细血管扩张症(AT)相关的T细胞白血病中常见的细胞遗传学异常;然而,罕见报道表明这种异常也见于B系急性淋巴细胞白血病(ALL)。我们在此报告两例普通型ALL病例,其表现出染色体异常t(14;14)(q11;q32)。免疫表型显示,病例1中的原始细胞CD9、CD10、CD38、CD22和CD15呈阳性,病例2中的原始细胞CD2、CD9、CD10、CD19、CD38、CD20和CD22呈阳性,但两例中CD3、CD4和CD8表达均为阴性。细胞遗传学分析显示,病例1有del(6)(q22)和t(14;14)(q11;q32),病例2有t(14;14)(q11;q32)和额外的标记染色体。荧光原位杂交(FISH)以及使用双色断裂分离IGH探针的连续R带FISH分析证实,我们病例中的t(14;14)(q11;q32)涉及IGH基因。结果表明,我们病例中B系ALL中涉及14q32处IGH的t(14;14)(q11;q32)与报道的与AT相关的T细胞白血病中涉及14q32.1处TCL1基因的情况不同。连续R带和FISH提供了对所涉及的染色体和基因改变的精确分析。