Thick J, Sherrington P D, Fisch P, Taylor A M, Rabbitts T H
MRC Laboratory of Molecular Biology, Cambridge, United Kingdom.
Genes Chromosomes Cancer. 1992 Nov;5(4):321-5. doi: 10.1002/gcc.2870050407.
The disease ataxia telangiectasia (A-T) is a multifaceted disorder in which patients have an increased chance of developing a T-cell leukaemia, often with abnormalities of chromosome 14, but sometimes with rare translocations, like t(X;14)(q28;q11). We describe the cloning of the breakpoint of one such novel t(X;14) from an A-T patient. The translocation breaks within the T cell receptor alpha chain gene on chromosome 14 at band q11 and in a region of the X chromosome, within about 1 Mb of the telomere of the long arm. The patient subsequently developed T-cell prolymphocytic leukaemia (T-PLL), and molecular examination showed that the tumour cells carried the same t(X;14) breakpoint as that cloned from the premalignant cells. The same breakpoint could be detected in blood samples taken as much as 5 years prior to diagnosis of T-PLL. This suggests a role for the abnormality in the tumour development in this patient but implies that other mutational events were necessary for overt disease to become manifest.
共济失调毛细血管扩张症（A-T）是一种多方面的疾病，患者患T细胞白血病的几率增加，通常伴有14号染色体异常，但有时也有罕见的易位，如t(X;14)(q28;q11)。我们描述了从一名A-T患者中克隆出一个此类新型t(X;14)断点的过程。该易位在14号染色体上T细胞受体α链基因的q11带处断裂，并在X染色体的一个区域内断裂，该区域位于长臂端粒约1 Mb范围内。该患者随后发展为T细胞幼淋巴细胞白血病（T-PLL），分子检查显示肿瘤细胞携带与从癌前细胞中克隆出的相同的t(X;14)断点。在诊断T-PLL前长达5年采集的血样中也能检测到相同的断点。这表明该异常在该患者的肿瘤发展中起作用，但意味着其他突变事件对于显性疾病的显现是必要的。
