Open AccessDifferential diagnosis of small bowel occlusions
Author(s) -
Paolo Ghiringhelli
Publication year - 2009
Publication title -
clinical management issues
Language(s) - English
Resource type - Journals
eISSN - 2283-3137
pISSN - 1973-4832
DOI - 10.7175/cmi.v3i2.551
Subject(s) - medicine , lynch syndrome , microsatellite instability , colorectal cancer , differential diagnosis , disease , dna mismatch repair , gastroenterology , cancer , pediatrics , pathology , microsatellite , genetics , gene , allele , biology
Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, and microsatellite instability (MSI). Patients with Lynch syndrome have a markedly increased risk of colorectal cancer. We report a case of a 28-year-old male with Lynch syndrome; the case allows to describe clinical manifestations and diagnostic criteria of this syndrome, and to underline the importance of genetics in the diagnosis of this disease