Clinical Aspects and Management of Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomical dominant trasmitted disease phenotypically defined according to the “Amsterdam criteria” as follows: at least 3 affected relatives, one of whom first degree relative of other two, at least two successive generations affected. Important cardinal features are:

1 prevalent proximal location of cancers (above splenic flexure);

2 multiple synchronous or methachronous large bowel cancers;

3 early age of onset (<50 years);

4 presence of extracolonic cancers (endometrium, stomach, urinary tract, skin).

The treatment is essentially surgical and total colectomy with ileo-rectum anastomosis is already proposed as standard procedure with annual endoscopic examination of retained rectum. The screening of individuals at risk, so determined by the analysis of pedigree or the results of molecular tests, must be performed every 1-2 years by colonoscopy starting around the age of 25 years. In this review are described and analysed the spectrum of the disease with particular attention to the frequency and characteristics of extracolonic cancers. Moreover, the guidelines of the surveillance and screening are reported following the data of the literature and as proposed by the International Collaborative Group (ICG-HNPCC).