摘要
Lynch综合征是一组常染色体显性遗传性疾病,在女性Lynch综合征患者中,恶性肿瘤的高发部位主要在子宫内膜,称之为Lynch综合征相关子宫内膜癌,错配修复基因的种系突变是该病发生的分子遗传学基础。随着遗传学的进步,此类女性肿瘤患者越来越受到临床医师的重视,但是目前仍对此类患者缺乏足够的诊断依据与方法,在治疗及相关随访上存在一定的争议,缺少具体的个体化治疗方案。
Lynch syndrome is a group of autosomal dominant hereditary disease. Endometrial carcinoma is the most important malignant tumor found in women of Lynch syndrome, defined as the Lynch syndrome- related endometrial carcinoma. And germinal mutation about MMR is the molecular genetics foundation. Clinicians pay more and more attention to this type of female cancer patients with the advances in genetics, however there is still no sufficient diagnosis and method for this type of patients, with a certain controversies ongoing with regards to the treatment and followup, and individualized regimen is still not in place.
出处
《医学综述》
2014年第12期2209-2211,2216,共4页
Medical Recapitulate