Allelotype study of esophageal carcinoma

TLDR

The study investigates genetic features of esophageal cancer by examining loss of heterozygosity in 93 squamous cell carcinomas using 41 RFLP markers across all autosomal chromosomes. The authors assessed LOH with these markers and screened the APC gene on chromosome 5q for mutations. Allelic losses ≥30% were observed at 3p, 3q, 5q, 9p, 9q, 10p, 13q, 17p, 17q, 18q, 19q, and 21q, with 19q loss correlating with lymph node metastasis and 17q loss more frequent in female patients, and no APC mutations were found, suggesting another 5q gene is involved. Genes Chromosom Cancer 10:177–182 (1994) and © 1994 Wiley‑Liss, Inc.

Abstract

Abstract To investigate genetic features of esophageal cancer, we have examined 93 squamous cell carcinomas of the esophagus for loss of heterozygosity (LOH), using 41 restriction fragment length polymorphism (RFLP) markers representing all autosomal chromosomes. Allelic losses at frequencies of at least 30% were observed at loci on chromosomal arms 3p (35%), 3q (30%), 5q (36%), 9p (57%), 9q (60%), 10p (33%), 13q (43%), 17p (62%), 17q (46%), 18q (38%), 19q (32%), and 21q (37%). These results suggest that several putative tumor suppressor genes, in addition to the cyclin D and TP53 genes that are sometimes mutated in esophageal carcinomas, may be associated with development and/or progression of esophageal cancer. By a comparison of LOH on each chromosomal arm with clinicopathological parameters, we have found a significant correlation between LOH on 19q and regional lymph node metastases. Interestingly, the frequency of LOH on 17q was significantly higher in tumors in female patients (12 of 14 cases) than in those in male patients (20 of 56 cases) ( P = 0.0009 by Fisher's exact test). Furthermore, we examined for mutations of the APC gene on chromosome arm 5q. Screening of nearly one third of the APC coding region, including the MCR (mutation cluster region), revealed no alterations. Therefore, although allelic loss at the APC locus is frequent in squamous cell carcinomas of the esophagus, it is likely that a gene on 5q other than APC is involved in esophageal tumorigenesis. Genes Chromosom Cancer 10:177–182 (1994). © 1994 Wiley‐Liss, Inc.