Genomic profiling of rectal adenoma and carcinoma by array-based comparative genomic hybridization
Genomic profiling of rectal adenoma and carcinoma by array-based comparative genomic hybridization
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DOI：
10.1186/1755-8794-5-52
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发表时间：
2012-11-16
影响因子：
2.7
通讯作者：
Zhang, Yu
中科院分区：
文献类型：
--
作者：
Shi, Zhi-Zhou;Zhang, Yue-Ming;Zhang, Yu
背景：直肠癌是世界上最常见的癌症之一。早期发现和早期治疗对控制直肠癌死亡至关重要。本研究旨在探讨直肠腺瘤和直肠癌的基因组改变，方法：应用微阵列CGH技术检测8例直肠腺瘤和8例直肠癌的基因组改变。然后选取14个基因，采用实时荧光定量PCR方法分析其在直肠癌组织和癌旁正常组织以及从腺瘤到癌组织中的表达情况。结果：在直肠腺瘤组织中有10例阳性表达，22例阴性表达，在直肠癌组织中有25例阳性表达，14例阴性表达。7p21.3-p15.3、7q22.3-q32.1、13q13.1-q14.11、13q21.1-q32.1、13q32.2-q34、20p11.21和20q11.23- q12增加，17p13.1-p11.2丢失，18p11.32-p11.21和18q11.1-q11.2在直肠腺瘤和直肠癌中均有表达。1 q、6p21.33-p21.31的增加和10 p14-p11.21、14 q12-q21.1、14q22.1-q24.3、14q31.3-q32.1、14q32.2-q32.32、15q15.1-q21.1、15q22.31和15q25.1-q25.2的丢失仅见于腺癌，而未见于腺瘤。从直肠腺瘤到直肠癌，EFNA 1的拷贝数和mRNA表达逐渐增加。C13 orf 27和PMEPA 1在直肠癌组织中均过表达，且在腺瘤和癌组织中拷贝数均增加。癌组织中GPNMB的蛋白和mRNA表达明显高于直肠腺瘤组织。结论：我们的数据可能有助于识别参与腺瘤-癌进展的驱动基因。
Background: Rectal cancer is one of the most common cancers in the world. Early detection and early therapy are important for the control of death caused by rectal cancer. The present study aims to investigate the genomic alterations in rectal adenoma and carcinoma.Methods: We detected the genomic changes of 8 rectal adenomas and 8 carcinomas using array CGH. Then 14 genes were selected for analyzing the expression between rectal tumor and paracancerous normal tissues as well as from adenoma to carcinoma by real-time PCR. The expression of GPNMB and DIS3 were further investigated in rectal adenoma and carcinoma tissues by immunohistochemistry.Results: We indentified ten gains and 22 losses in rectal adenoma, and found 25 gains and 14 losses in carcinoma. Gains of 7p21.3-p15.3, 7q22.3-q32.1, 13q13.1-q14.11, 13q21.1-q32.1, 13q32.2-q34, 20p11.21 and 20q11.23- q12 and losses of 17p13.1-p11.2, 18p11.32-p11.21 and 18q11.1-q11.2 were shared by both rectal adenoma and carcinoma. Gains of 1q, 6p21.33-p21.31 and losses of 10p14-p11.21, 14q12-q21.1, 14q22.1-q24.3, 14q31.3-q32.1, 14q32.2-q32.32, 15q15.1-q21.1, 15q22.31 and 15q25.1-q25.2 were only detected in carcinoma but not in adenoma. Copy number and mRNA expression of EFNA1 increased from rectal adenoma to carcinoma. C13orf27 and PMEPA1 with increased copy number in both adenoma and carcinoma were over expressed in rectal cancer tissues. Protein and mRNA expression of GPNMB was significantly higher in cancer tissues than rectal adenoma tissues.Conclusion: Our data may help to identify the driving genes involved in the adenoma-carcinoma progression.