关键词: 结直肠肿瘤, 遗传性非息肉性, 诊断, 治疗, 综述

Abstract: Lynch syndrome is a recognized hereditary tumor syndrome, which is the most common cause of hereditary colorectal cancer and the only known cause of hereditary endometrial cancer. Lynch syndrome-associated tumors also include ovarian cancer, gastric cancer, urothelial cancer and small bowel cancer. While we have known the mechanism of Lynch syndrome is mismatch repair deficiency and microsatellite instability, there have been new advances recently in their diagnosis and molecular pathogenesis, which suggests that different mismatch repair deficiency corresponds to different Lynch syndrome-associated tumors and different incidence, and produces new impact on the surveillance of patients, with the treatment methods constantly enriched and improved. For example, positive results have been achieved in the treatment of Lynch syndrome-associated tumors using the immune effects of microsatellite instability. We will introduce the genetic characteristics, diagnosis of Lynch syndrome and clinicopathological characteristics, treatment of its associated tumors, and the recent progress will be highlighted.

Key words: Colorectal neoplasms, hereditary nonpolyposis, Diagnosis, Therapy, Review