Chromosomal imbalance in esophageal squamous cell carcinoma: 3q gain correlates with tumor progression but not prognostic significance.

DNA copy number changes were analyzed by comparative genomic hybridization (CGH) in 53 esophageal squamous cell carcinomas (ESCC) to clarify the relationship between DNA sequence copy number aberrations and clinicopathological factors. Changes in DNA copy number were observed in all 53 ESCC patients. The average number of DNA copy number gains was 9.32 (range 1-23), most frequently located on chromosomes 3q, 5p, 8q, 11q and Xq in over 40% of tumors. Loss of DNA copy number was detected on 3p, 5q, 4p, 1p and Xp in over 20% of tumors. No statistically significant differences in the frequency of DNA copy number changes were observed. However, some loci showed correlation with clinicopathologic factors: 8q gain correlated with the pattern of tumor infiltration, 3q gain correlated with pT, 2p gain, 1p loss and 16p loss correlated with lymphatic invasion, and 3q gain correlated with clinical stage. Thus, in ESCC, gain of 3q is the only specific recurrent pattern of DNA aberration that correlates with clinicopathologic parameters, although no particular loci correlated with patient prognosis. Further CGH analysis may reveal new, recurrent genetic changes in ESCC affecting chromosomes sites that harbor genes known to participate in tumorigenesis and progression of several human malignant neoplasms.