Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma.

U pper urinary tract transitional cell carcinoma (UUTTCC) accounts for 5% of all urothelial carcinomas. Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome predisposing to colorectal cancer that accounts for about 5% of all colorectal cancers. It is revealed by colorectal cancer (63%) or extracolonic cancers, most often of the endometrium (9%) or ovary, but sometimes of the upper urinary tract (5%), small bowel, stomach, or hepatobiliary tract. Patients with hereditary non-polyposis colorectal cancer have a genetic risk of developing these cancers. 6 This study concerns patients with upper urinary tract transitional cell carcinoma who did not meet the international clinical criteria (Amsterdam criteria) for hereditary non-polyposis colorectal cancer. The question that arises is whether the biochemical and molecular biology tests used to screen for hereditary non-polyposis colorectal cancer might not help detect hereditary disease among these cases of upper urinary tract transitional cell carcinoma. The tests used in suspected cases of hereditary nonpolyposis colorectal cancer are: