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Int J Med Sci 2016; 13(11):868-874. doi:10.7150/ijms.16845

Research Paper

Amplification and overexpression of CTTN and CCND1 at chromosome 11q13 in Esophagus squamous cell carcinoma (ESCC) of North Eastern Chinese Population

Xiaoxia Hu1,4,*, Ji Wook Moon2,*, Shibo Li1, Weihong Xu2, Xianfu Wang2, Yuanyuan Liu3✉, Ji-Yun Lee2✉

1. Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA
2. Department of Pathology, Korea University College of Medicine, Seoul, 02841, Republic of Korea
3. Department of Internal Medicine, the First Hospital of Jilin University, Jilin, 130021, P.R. China.
4. Department of Clinical Medicine, College of Medicine and Health, Lishui University, Zhejiang, 323000, P.R. China
*These authors contributed equally to this study

Abstract

Esophageal squamous cell carcinoma (ESCC) is a genetically complex tumor type and is a major cause of cancer-related mortality. The combination of genetics, diet, behavior, and environment plays an important role in the carcinogenesis of ESCC. To characterize the genomic aberrations of this disease, we investigated the genomic imbalances in 19 primary ESCC cases using high-resolution array comparative genomic hybridization (CGH). All cases showed either loss or gain of whole chromosomes or segments of chromosome(s) with variable genomic sizes. The copy number alterations per case affected the median 34% (~ 1,034Mb/3,000Mb) of the whole genome. Recurrent gains were 1q21.3-qter, 3q13.11-qter, 5pter-p11, 7pter-p15.3, 7p12.1-p11.2, 7q11-q11.2, 8p12-qter, 11q13.2-q13.3, 12pter-p13.31, 17q24.2, 20q11.21-qter, and 22q11.21-q11.22 whereas the recurrent losses were 3pter-p11.1, 4pter-p12, 4q28.3-q31.22, 4q31.3-q32.1, 9pter-p12, 11q22.3-qter and 13q12.11-q22.1. Amplification of 11q13 resulting in overexpression of CTTN/CCND1 was the most prominent finding, which was observed in 13 of 19 ESCC cases. These unique profiles of copy number alteration should be validated by further studies and need to be taken into consideration when developing biomarkers for early detection of ESCC.

Keywords: Esophageal squamous cell carcinoma, Array CGH, CTTN, CCND1

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How to cite this article:
Hu X, Moon JW, Li S, Xu W, Wang X, Liu Y, Lee JY. Amplification and overexpression of CTTN and CCND1 at chromosome 11q13 in Esophagus squamous cell carcinoma (ESCC) of North Eastern Chinese Population. Int J Med Sci 2016; 13(11):868-874. doi:10.7150/ijms.16845. Available from http://www.medsci.org/v13p0868.htm