gms | German Medical Science

Lynch Syndrome or Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant predisposition to colorectal cancer and other malignancies. Patients with this diagnosis should undergo regular surveillance examinations starting at young age. The acronym HNPCC underlines the high risk for colorectal cancer. To date, it seems as if mainly gastroenterologists are familiar with the syndrome and thus identify HNPCC patients or HNPCC suspects. Specialists however now prefer the name Lynch syndrome as in their opinion the term HNPCC focuses too much on colorectal malignancies. Indeed, female Lynch Syndrome patients are at high risk for endometrial and ovarian cancer - besides colorectal, gastric, small bowel, hepatobiliary tract, upper urologic tract, brain and other tumours: The risk for endometrial cancer has been estimated as 25-60%, for ovarian cancer as 10%. Whether there is increased risk for breast cancer is discussed controversially. Gynecologists should be alert and consider the diagnosis of a Lynch Syndrome when endometrial or ovarian cancer is diagnosed at a young age or when patients are affected by syn- or metachronous tumours. These patients and their families should be offered genetic counselling and further molecular genetic evaluation for HNPCC. For female HNPCC patients at present an annual transvaginal ultrasound is recommended in addition to other annual surveillance examinations (e.g. colonoscopy) although its benefit is not proven yet. There is no official recommendation for prophylactic surgery to date. However, hysterectomy and bilateral salpingo-oophorectomy is an option to consider when child bearing is complete. The German HNPCC Consortium is supported by Deutsche Krebshilfe.