Key points are not available for this paper at this time.
We investigated copy number aberrations in 29 primary tumors and 12 cell lines of esophageal squamous cell carcinoma (ESC) using comparative genomic hybridization. In the primary tumors, the most common sites of copy number gains were 3q26.3–27 (45%), 8q24 (41%), 5p15 (38%), Xq27–28 (38%), 14q32 (31%), 11q13 (28%), and 20q13.3 (28%). High-level gains (HLGs) indicative of gene amplifications were identified at 11q13 in two cases, and in one case each at 2q33–34, 3q25–29, 5p15.1–15.2, 7q21–22, 11p11.2, 12p11.2–12, and 13q34. Recurrent losses were observed only at 9p13 (17.2%). In the 12 ESC cell lines, the most common sites of HLGs were 5p15.1–15.3 (four cases), 11q13 (four cases), 8q24.1–24.2 (three cases), 20q13.2–13.3 (three cases), 3q26.3 (two cases), and 7p15–22 (two cases). Less frequent HLGs (one case each) were observed at 2p16–22, 3q25, 7p12–14, 7q21–22, 9q34, 10q21, 11p11.2, 14q13–14, 14q31–32, 15q22–26, and 17p11.2. Chromosomes and chromosome arms that showed frequent losses in the cultured lines were 18q (58%), 4 (50%), 9p (50%), and 3p (42%). These findings provide evidence for a number of previously unknown genomic aberrations in ESC, suggesting target regions for positional cloning of genes relevant to carcinogenesis in the esophagus. In particular, we identified a significant amplification of the DP1 gene (TFDP1), a transcription factor that forms heterodimers with E2F1, in the single primary tumor that exhibited HLG at 13q34. Genes Chromosomes Cancer 24:337–344, 1999. © 1999 Wiley-Liss, Inc.
Shinomiya et al. (1999) studied this question.