Molecular cytogenetic fingerprinting of esophageal squamous cell carcinomaby comparative genomic hybridization reveals a consistent pattern of chromosomal alterations

Esophageal cancer is the third most prevalent gastrolntestinal malignancy i n the world. The tumor responds poorly to various therapeutic regimens and the genetic events underlying esophageal carcinogenesis are not well unders tood. To identify overall chromosomal aberrations in esophageal squamous ce ll carcinoma, we performed comparative genomic hybridization (CGH). All 17 tumor samples were found to exhibit multiple gains and losses involving dif ferent chromosomal regions. The frequency of chromosomal loss associated wi th this type of tumor was as follows: in 2q ( 100%), 3p ( 100%), 13q ( 100% ), Xq (94%), 4 (82%), 5q (82%), 18q (76%), 9p (76%), 6q (70%), 12q (70%), 1 4q (65%), 11q (59%), and Ip (53%). Interstitial deletions on Ip, 3p, 5q, 6q , I Iq, and 12q were detected also. Chromosomal gains were displayed by chr omosomes and chromosome areas:19 (100%), 20q (94%), 22 (94%), 16p (65%), 17 (59%), 12q (59%), 8q (53%), 9q (53%), and 3q (50%). Two sites showing appa rent amplification were I Iq (70%) and 5p15 (47%). To validate the CGH data , we isolated a BAC clone mapping to 18q12.1. This clone was used as a prob e in interphase fluorescence in situ hybridization of tumor touch preparati ons and allelic loss was clearly revealed. This study represents the first whole-genome analysis in esophageal squamous cell carcinoma for associated chromosomal aberrations that may be involved in either the genesis or progr ession of this malignancy. (C) 1999 Wiley-Liss, Inc.