Taylor A M, Oxford J M, Metcalfe J A
Int J Cancer. 1981 Mar 15;27(3):311-9. doi: 10.1002/ijc.2910270309.
Ataxia telangiectasia (AT) is a human autosomal recessive disorder in which patients show a marked predisposition to malignant disease and cytogenetic abnormalities. We report here the levels of spontaneously occurring chromosome aberrations and particularly the presence of cytogenetically marked clones of cells in peripheral lymphocytes of 13 patients. There is a variation between the patients with respect to frequency of different aberration types, and clones are present in 5/13 patients. Several of these patients appear to have more than a single clone, possible clones or subclones. There is no evidence for any malignant disease in any of these patients. A description is given from one of these patients, of the most complex clone so far reported in an AT patient without malignant disease. The development of such a complex clone might be important as a step in malignant change. Similarities between this clone and one reported in an AT patient with T-cell chronic lymphocytic leukaemia are discussed.
共济失调毛细血管扩张症（AT）是一种人类常染色体隐性疾病，患者表现出对恶性疾病和细胞遗传学异常的显著易感性。我们在此报告了13例患者外周淋巴细胞中自发染色体畸变的水平，特别是细胞遗传学标记的细胞克隆的存在情况。不同畸变类型的频率在患者之间存在差异，13例患者中有5例存在克隆。其中一些患者似乎有不止一个克隆、可能的克隆或亚克隆。这些患者中没有任何恶性疾病的证据。对其中一名患者进行了描述，该患者的克隆是迄今为止在无恶性疾病的AT患者中报道的最复杂的克隆。这种复杂克隆的发展可能作为恶性转变的一个步骤很重要。讨论了该克隆与一名患有T细胞慢性淋巴细胞白血病的AT患者中报道的克隆之间的相似性。
