利用比较基因组杂交技术分析食管癌组织中染色体基因组的变化特征

Comparative genomic hybridization: the profile of chromosomal imbalances in esophageal squamous cell carcinoma

目的 探讨河南食管癌高发区居民食管癌发生发展的基因组变化特征。方法 应用比较基因组杂交技术分析52例原发性食管癌患者染色体基因组变化,按临床分期、有无淋巴结及远处转移进行分组比较。结果 在食管癌中3q、8q、5p、1q、6q、18p、20q的染色体基因组扩增和3p、1p、9q、19p、4p、8p染色体基因组丢失频繁( >20% )。3q、5p、1q、11q13 14的染色体基因组扩增和4pq、13q染色体基因组丢失与食管癌病理分期相关(P<0 .05)。8q扩增和4p丢失与淋巴结转移相关(P<0. 05)。2p扩增和4pq、l1q14 qter的丢失与远处器官转移相关(P<0 .05)。结论 染色体3q、8q、5p、1q、6q、18p和20q部位可能存在与食管癌变密切相关的癌基因, 3p、1p、9q、19p、4p和8p可能存在与食管癌变密切相关的抑癌基因; 3q、5p、1q、11q13 14扩增和4pq、13q丢失与食管癌的发展相关,而8q、2p扩增和4pq、11q14 qter的丢失是食管癌发展的晚期事件与食管癌转移相关,不同的基因参与了淋巴结转移和远处器官转移。

Objective To characterize the profile of chromosomal imbalances of esophageal squamous cell carcinoma (SCC) in Linzhou, the high prevalence area of Henan province. Methods Comparative genomic hybridization (CGH) was used to examine 52 cases of primary SCC of esophagus.Results Gains in part or in whole of chromosome 3q, 8q, 5p, 1q, 6q, 18p, 20q and losses of 3p, 1p, 9q, 19p, 4p, 8p were detected frequently in SCC (>20%). Gain of 3q, 5p, 1q,11q13-14 and loss of 4pq, 13q were all significantly correlated with pathologic staging (P<0.05). Gains of 8q, loss of 4p were linked to nodal metastasis (P<0.05). Gains of 2p and loss of 4pq, 11q14-qter were associated with distant organ metastasis (P<0.05). Conclusion These observations suggest that 3q, 8q, 5p, 1q, 6q, 18p, and 20q may contain SCC-related oncogenes; 3p, 1p, 9q, 19p, 4p and 8p may contain SCC-related tumor suppressor genes. It is likely that gain of 3q, 5p, 1q, 11q13-14 and loss of 4pq, 13q are the genetic aberrations critical for the development of esophageal carcinoma, whereas gains of 8q, 2p and loss of 4pq, 11q14-qter are considered later events associated with tumor progression and are thought to confer metastatic potential to esophageal carcinoma. Furthermore, nodal and distant organ metastases involve different genes.