Heselmeyer K, Macville M, Schröck E, Blegen H, Hellström A C, Shah K, Auer G, Ried T
Diagnostic Development Branch, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892-4470, USA.
Genes Chromosomes Cancer. 1997 Aug;19(4):233-40.
We have analyzed 30 cases of advanced-stage cervical squamous cell carcinoma (stages IIb-IV) by comparative genomic hybridization (CGH). The most consistent chromosomal gain in the aneuploid tumors was mapped to chromosome arm 3q in 77% of the cases. Acquisition of genetic material also occurred frequently on Iq (47%), 5p (30%), 6p (27%), and 20 (23%). Recurrent losses were mapped on 2q (33%), 3p (50%), 4 (33%), 8p (23%), and 13q (27%). High-level copy number increases were mapped to chromosome 8, chromosome arms 3q, 5p, 8q, 12p, 14q, 17q, 19q, 20p, and 20q, and chromosomal bands 3q26-27, 9p23-24, 11q22-23, and 12p13. In the majority of the cases, the presence of high-risk human papilloma virus genomes was detected. High proliferative activity was accompanied by crude aneuploidy. Increased p21/WAF-I activity, but low or undetectable expression of TP53 were representative for the immunophenotype. This study confirms the importance of a gain of chromosome arm 3q in cervical carcinogenesis and identifies additional, recurrent chromosomal aberrations that are required for progression from stage I tumors to advanced-stage carcinomas.
我们通过比较基因组杂交（CGH）分析了30例晚期宫颈鳞状细胞癌（IIb-IV期）。在非整倍体肿瘤中，最一致的染色体增加定位于3q染色体臂，77%的病例出现该情况。遗传物质的获得在1q（47%）、5p（30%）、6p（27%）和20（23%）上也频繁发生。反复出现的缺失定位于2q（33%）、3p（50%）、4（33%）、8p（23%）和13q（27%）。高水平的拷贝数增加定位于8号染色体、3q、5p、8q、12p、14q、17q、19q、20p和20q染色体臂，以及3q26-27、9p23-24、11q22-23和12p13染色体带。在大多数病例中，检测到高危人乳头瘤病毒基因组的存在。高增殖活性伴有明显的非整倍体。p21/WAF-1活性增加，但TP53表达低或无法检测，这是免疫表型的特征。本研究证实了3q染色体臂增加在宫颈癌发生中的重要性，并确定了从I期肿瘤进展为晚期癌所需的其他反复出现的染色体畸变。
