Comparative genomic hybridization analysis of genetic aberrations associated with development of esophageal squamous cell carcinoma in Henan, China
Comparative genomic hybridization analysis of genetic aberrations associated with development of esophageal squamous cell carcinoma in Henan, China
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DOI：
10.3748/wjg.14.1828
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发表时间：
2008-03-28
影响因子：
4.3
通讯作者：
Guan, Xin-Yuan
中科院分区：
文献类型：
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作者：
Qin, Yan-Ru;Wang, Li-Dong;Guan, Xin-Yuan
目的：方法：收集北方河南省林州市食管鳞状细胞癌（ESCC）高发区37例原发性ESCC和15对原发性ESCC肿瘤及其配对的淋巴结转移病例。应用比较基因组杂交（CGH）技术对这些病例的冰冻食管鳞癌和转移淋巴结标本进行染色体畸变检测。在37例原发性食管鳞癌中，染色体DNA拷贝数以8 q（29/37，78%）、3q（24/37，65%）、5 p（19/37，51%）增加和3 p（21/37，57%）、8 p和9 q（14/37，38%）丢失为特征。在15对原发性食管鳞癌及其配对的淋巴结转移病例中，原发性肿瘤和淋巴结转移灶中的大多数染色体畸变与原发性食管鳞癌病例一致，但也检测到新的候选感兴趣区域。最显著的发现是7个转移淋巴结中染色体6p的增加，在6p 12 - 6 q12处有最小的高水平扩增区域，而仅2个相应的原发肿瘤（P = 0.05）; 11个转移淋巴结中染色体20 p的增加，在20 p12处有最小的高水平扩增区域，而仅5个相应的原发肿瘤（P < 0.05）。另一个有趣的发现是8个和7个转移淋巴结中染色体10 p和10 q丢失，而仅在2个相应的原发肿瘤中丢失（P < 0.05）。结论：应用CGH技术检测食管鳞癌原发灶及其转移淋巴结的染色体畸变，8 q、3q、5 p的增加和3 p、8 p的丢失，9 q和13 q与林州人群食管鳞癌的发生有特异性关系。6p和20 p的增加和10 pq的丢失可能与食管鳞癌的淋巴结转移有关。这些结果提示，染色体区域的获得和丢失可能包含了与食管癌相关的癌基因和抑癌基因，为寻找和克隆新的与食管癌相关的癌基因和抑癌基因提供了重要的理论信息。(c)2008年WJG。All rights reserved.
AIM: To characterize cytogenetic alterations in esophageal squamous cell carcinoma (ESCC) and its metastasis.METHODS: A total of 37 cases of primary ESCC and 15 pairs of primary ESCC tumors and their matched metastatic lymph nodes cases were enrolled from Linzhou, the high incidence area for ESCC in Henan, northern China. The comparative genomic hybridization (CGH) was applied to determine the chromosomal aberrations on the DNA extracted from the frozen ESCC and metastatic lymph node samples from these patients.RESULTS: CGH showed chromosomal aberrations in all the cases. In 37 cases of primary ESCC, chromosomal profile of DNA copy number was characterized by frequently detected gains at 8q (29/37, 78%), 3q (24/37, 65%), 5p (19/37, 51%); and frequently detected losses at 3p (21/37, 57%), 8p and 9q (14/37, 38%). In 15 pairs of primary ESCC tumors and their matched metastatic lymph node cases, the majority of the chromosomal aberrations in both primary tumor and metastatic lymph node lesions were consistent with the primary ESCC cases, but new candidate regions of interest were also detected. The most significant finding is the gains of chromosome 6p with a minimum high-level amplification region at 6p12-6q12 in 7 metastatic lymph nodes but only in 2 corresponding primary tumors (P = 0.05) and 20p with a minimum high-level amplification region at 20p12 in 11 metastatic lymph nodes but only in 5 corresponding primary tumors (P < 0.05). Another interesting finding is the loss of chromosome 10p and 10q in 8 and 7 metastatic lymph nodes but only in 2 corresponding primary tumors (P < 0.05).CONCLUSION: Using the CGH technique to detect chromosomal aberrations in both the primary tumor and its metastatic lymph nodes of ESCC, gains of 8q, 3q and 5p and loss of 3p, 8p, 9q and 13q were specifically implicated in ESCC in Linzhou population. Gains of 6p and 20p and loss of 10pq may contribute to the lymph node metastasis of ESCC. These findings suggest that the gains and losses of chromosomal regions may contain ESCC-related oncogenes and tumor suppressor genes and provide important theoretic information for identifying and cloning novel ESCC-related oncogenes and tumor suppressor genes. (c) 2008 WJG. All rights reserved.