Smadja N, Krulik M, Génot J Y, Audebert A A, Debray J
Nouv Rev Fr Hematol (1978). 1984;26(5):303-8.
The authors report three cases of Ph1-positive chronic myelogenous leukemia (CML) with chromosome no 1 abnormalities. Such abnormalities have seldom been reported: three cases out of 42 in blast crisis and none of the 70 patients in the chronic phase in our series. In case no 1 a translocation: (t(1q;14q) was noted. In case no 2 the rearrangement was more complex: partial duplication of the long arm of chromosome no 1 and presence of a 21q+ corresponding to chromosome no 21 on which a part of the long arm of chromosome no 1 was transferred. In case no 3 a double translocation was noted between chromosomes no 1 and no 11, involving either the p or q arm. A review of the literature shows that abnormalities of chromosome no 1 are more frequent during the blast crisis that in the chronic phase of CML. Chromosome no 1 abnormalities are found in a number of myeloproliferative syndromes but even more frequently in solid tumors. The rearrangement sites are reviewed by the authors. Such rearrangements of chromosome no 1 may indicate an increased potential of malignancy.
作者报告了3例伴有1号染色体异常的Ph1阳性慢性粒细胞白血病（CML）。此类异常鲜有报道：在我们的系列研究中，急变期42例中有3例，慢性期70例中无一例出现此类异常。病例1发现一种易位：（t(1q;14q)）。病例2的重排更为复杂：1号染色体长臂部分重复，存在一条对应于21号染色体的21q+，1号染色体长臂的一部分转移至该21号染色体上。病例3发现1号和11号染色体之间发生双易位，涉及p臂或q臂。文献回顾显示，1号染色体异常在CML急变期比慢性期更为常见。在多种骨髓增殖性综合征中均可发现1号染色体异常，但在实体瘤中更为常见。作者对重排位点进行了综述。1号染色体的此类重排可能表明恶性潜能增加。
