Progression of intestinal metaplasia to esophageal adenocarcinoma in patients with Barrett’s esophagus is driven in part by chromosomal alterations that activate oncogenes and inactivate tumor suppressor genes. A larger number of chromosomal abnormalities are detected as the severity of the histological diagnosis of intestinal metaplasia increases to adenocarcinoma.
Changes in copy number of chromosomal loci ERBB2 (17q12), p16 (9p21), C-MYC (8q24) and ZNF217 (20q13.2) are associated with dysplasia and esophageal adenocarcinoma (EAC) in patients with Barret’s esophagus (BE). Esophageal squamous-cell carcinoma (ESCC) is one of the most common cancers and is associated with a poor prognosis.
Multi-colour Fluorescence in situ hybridisation (FISH) investigating ERBB2, MYC, CDKN2A(P16) and ZNF217 has recently shown promising results for the diagnosis of dysplasia and cancer using cytological samples. The prognostic value of multi-colour FISH-assays is applicable to EAC and is superior to single markers.