Non-invasive detection of colorectal tumours by the combined application of molecular diagnosis and the faecal occult blood test

Abstract 

The treatment of early-stage tumours decreases the overall mortality of colorectal tumour patients. In this retrospective study we determined the sensitivity and the specificity of the faecal occult blood test (FOBT) and the molecular diagnosis (MD). We analysed 57 stool samples from patients with colorectal carcinomas for the presence of occult blood using a standard FOBT and for alterations in the three different tumour relevant markers APC, BAT26 and L-DNA. Stool samples from 44 control donors were analysed to determine the specificity of the applied methods. Twenty-nine (51%; 95% confidence interval (CI): 38–63%) stool samples of the cancer patients gave positive FOBT results. Thirty-seven (65%; CI: 52–76%) samples showed alterations in at least one DNA marker. Sixteen (28%) samples were positive only in the FOBT, and 24 (42%) samples showed a positive result exclusively in MD. The combined application of both methods resulted in a sensitivity of 93% (CI: 83–97%) and an overall specificity of 89% (CI: 76–95%). The combined application of FOBT and MD resulted in an overall sensitivity, which could not be achieved by any of the methods alone and which is in the range of invasive diagnostic methods.

Keywords: Non-invasive colorectal cancer diagnosis, Faecal DNA analysis, Molecular diagnosis, Faecal occult blood test