Al Saadi A, Palutke M, Kumar G K
Hum Genet. 1980;55(1):23-9. doi: 10.1007/BF00329122.
Sequential cytogenetic studies of four patients with ataxia telangiectasia showed the progressive development of lymphocyte clones, each marked with a rearranged chromosome 14. Initial studies had shown random chromosomal breaks and rearrangements. Later studies in all patients showed nonrandom rearrangement of chromosome 14 with a breakpoint at 14q12 and with the distal segment translocated to either chromosome 14 or 7. The proportion of circulating lymphocytes carrying the marker tended to increase with time, accounting for the majority of the lymphocytes eventually in one case. The marked lymphocyte clones evolved further, as a result of loss of the small centric portions of the rearranged chromosome 14 (14pter leads to 14q12). Perhaps the abnormal clones in ataxia telangiectasia escape immunologic surveillance and flourish in an immunologically impaired environment. Subsequent to the loss of the centric portion of the rearranged chromosome 14, the cells may acquire additional capabilities that enhance malignant transformation.
对四名共济失调毛细血管扩张症患者进行的连续细胞遗传学研究显示，淋巴细胞克隆呈渐进性发展，每个克隆都带有一条重排的14号染色体。最初的研究显示有随机的染色体断裂和重排。后来对所有患者的研究表明，14号染色体发生了非随机重排，断点位于14q12，远端片段易位至14号或7号染色体。携带该标记的循环淋巴细胞比例往往随时间增加，在一例患者中最终占淋巴细胞的大多数。标记的淋巴细胞克隆进一步演变，原因是重排的14号染色体（14pter至14q12）的小中心部分缺失。也许共济失调毛细血管扩张症中的异常克隆逃避了免疫监视，并在免疫受损的环境中大量增殖。在重排的14号染色体中心部分缺失后，细胞可能获得增强恶性转化的其他能力。
