Wake N, Minowada J, Park B, Sandberg A A
Cancer Genet Cytogenet. 1982 Aug;6(4):345-7. doi: 10.1016/0165-4608(82)90091-7.
Cytogenetic and immunologic studies were performed on the cells of an 18-year-old female with ataxia telangiectasia (AT) associated with acute lymphocytic leukemia (ALL). At the onset of the leukemia 15.4% of peripheral blood cells stimulated with phytohemagglutinin (PHA) contained a tandem translocation of the long arm of chromosome #14, i.e., t(14;14). To ascertain if these karyotypically abnormal cells and the leukemic cells had a common lineage, chromosome analyses were performed on bone marrow cells. Examination of the marrow cells on the seven occasions when leukemic cells were present in the marrow, including times when they were predominant, showed only a normal karyotype without the presence of t(14;14). However, an abnormal clone, which had the karyotype 45,XX,-9,t(9;6)(q12;q13), was identified in the marrow cells on the last examination during the terminal phase of the leukemia. Immunologically, the ALL was classified as an atypical type which had characteristics in common with certain T-cell subsets. We suggest that the malignant cells did not originate from the preexisting cells with a tandem duplication of the 14q.
对一名患有共济失调毛细血管扩张症（AT）并伴有急性淋巴细胞白血病（ALL）的18岁女性的细胞进行了细胞遗传学和免疫学研究。在白血病发病时，用植物血凝素（PHA）刺激的外周血细胞中有15.4%含有14号染色体长臂的串联易位，即t(14;14)。为确定这些核型异常细胞与白血病细胞是否有共同谱系，对骨髓细胞进行了染色体分析。在骨髓中存在白血病细胞的7次检查中，包括白血病细胞占优势时，对骨髓细胞的检查显示核型正常，不存在t(14;14)。然而，在白血病终末期的最后一次检查中，在骨髓细胞中鉴定出一个异常克隆，其核型为45,XX,-9,t(9;6)(q12;q13)。在免疫学上，该ALL被分类为非典型类型，具有与某些T细胞亚群共同的特征。我们认为，恶性细胞并非起源于先前存在的具有14q串联重复的细胞。
