Hollis R J, Kennaugh A A, Butterworth S V, Taylor A M
Hum Genet. 1987 Aug;76(4):389-95. doi: 10.1007/BF00272451.
Human T cell malignancies often show chromosome breaks at 14q11, within the alpha chain locus of the human T cell antigen receptor, with translocation of the distal portion of 14 to one of several sites. In patients with ataxia telangiectasia (A-T) the majority of T cell chromosome translocations associated with this disorder appear to occur at the sites of the T cell antigen receptor genes 7p14, 7q35, and 14q11 and may result in clone formation. In three large proliferating A-T T cell clones we have observed (including one which became malignant) and in most T cell tumours reported, the clonal chromosome exchange involves one breakpoint at 14q11 with the second breakpoint occurring in a gene not involved in the immunoglobulin supergene family. Our observations on A-T patients confirm the suggestion that chromosome exchanges involving either t(7;14)(p14;q11), t(7;14)(q35;q11), inv(7)(p14q35), or t(7;7)(p14;q35) confer only a small proliferative advantage on T cells in vivo without the capacity for malignant transformation and that the potential for malignant change is not a feature of all these rearrangements, but is restricted to cells or clones with other chromosome exchanges.
人类T细胞恶性肿瘤常常在14q11处出现染色体断裂，该区域位于人类T细胞抗原受体的α链基因座内，14号染色体远端部分会易位至其他几个位点之一。在共济失调毛细血管扩张症（A-T）患者中，与该疾病相关的大多数T细胞染色体易位似乎发生在T细胞抗原受体基因7p14、7q35和14q11位点，可能导致克隆形成。在我们观察到的三个大型增殖性A-T T细胞克隆中（包括一个发生恶变的克隆），以及在大多数已报道的T细胞肿瘤中，克隆性染色体交换涉及14q11处的一个断点，第二个断点出现在一个不参与免疫球蛋白超基因家族的基因中。我们对A-T患者的观察证实了以下观点：涉及t(7;14)(p14;q11)、t(7;14)(q35;q11)、inv(7)(p14q35)或t(7;7)(p14;q35)的染色体交换在体内仅赋予T细胞较小的增殖优势，而没有恶性转化的能力，并且恶性改变的可能性并非所有这些重排的特征，而是仅限于具有其他染色体交换的细胞或克隆。
