Hecht B K, Turc-Carel C, Chatel M, Grellier P, Gioanni J, Attias R, Gaudray P, Hecht F
Laboratory of Molecular Genetics of Human Cancers, URA CNRS 1462, Nice, France.
Cancer Genet Cytogenet. 1995 Oct 1;84(1):1-8. doi: 10.1016/0165-4608(95)00091-7.
Autosomal chromosome abnormalities are far from always detectable and, when detected, far from fully consistent in malignant gliomas. In 15 of 41 malignant gliomas, we found autosomal chromosome aberrations ranging from solitary trisomy to a wildly abnormal polyploid complement. The sequence of chromosome events appears to proceed from the normal to the near-diploid state (via structural and numerical changes) to near-tetraploidy (via polyploidization), and finally toward near-triploidy (via chromosome loss and additional rearrangements). Characteristic chromosome changes of trisomy 7 and monosomy 10 were repeatedly found, usually together in the same cell clones. In only one case was trisomy 7 an isolated change. We observed structural rearrangements of chromosomes 7 and 10 which may be of some use in mapping specific genes duplicated or deleted by the whole-chromosome changes of chromosomes 7 and 10. Nonrandom structural changes of other autosomes, including chromosomes 1, 5, and 11, fit with the model of malignant glioma as a process involving multiple genes. An unusual concentration of breakpoints in 12q13, juxtaposing it to at least five other regions, reflects the presence of genetic information in 12q13 important to the development of malignant gliomas.
常染色体异常在恶性胶质瘤中远非总能被检测到，即便检测到，也远非完全一致。在41例恶性胶质瘤中，有15例发现了常染色体畸变，范围从孤立的三体性到极度异常的多倍体组成。染色体事件的顺序似乎是从正常状态发展到近二倍体状态（通过结构和数量变化），再到近四倍体状态（通过多倍体化），最后朝着近三倍体状态发展（通过染色体丢失和额外的重排）。反复发现7号染色体三体性和10号染色体单体性的特征性染色体变化，通常在同一细胞克隆中同时出现。仅在1例中，7号染色体三体性是孤立的变化。我们观察到7号和10号染色体的结构重排，这可能有助于定位因7号和10号染色体的整条染色体变化而复制或缺失的特定基因。其他常染色体（包括1号、5号和11号染色体）的非随机结构变化，符合恶性胶质瘤是一个涉及多个基因的过程这一模型。12q13区域断点的异常集中，使其与至少其他五个区域相邻，这反映了12q13中对恶性胶质瘤发展至关重要的遗传信息的存在。
