Yuan Zhijun, Yang Mengyuan, Yuan Ying
Department of Radiation Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Department of Medical Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, Zhejiang Provincial Clinical Research Center for CANCER, Cancer Center of Zhejiang University, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Clin Colon Rectal Surg. 2023 Apr 9;36(6):391-399. doi: 10.1055/s-0043-1767708. eCollection 2023 Nov.
The pathogenesis, clinical phenotype, treatment strategy, and family management of hereditary tumor syndromes are different from those of sporadic tumors. Nearly a quarter of patients with colorectal cancer show significant familial aggregation and genetic predisposition, and 5 to 10% are associated with definite genetic factors. According to the clinical phenotype, it can be divided into nonpolyposis syndrome and polyposis syndrome. Among the polyposis syndrome patients with definite clinical symptoms, there are still some patients with unknown etiology (especially attenuated familial adenomatous polyposis), which is a difficult problem in clinical diagnosis and treatment. Therefore, for this rare disease, it is urgent to carry out multicenter studies, complete the gene variation spectrum, explore new pathogenic factors, and accumulate clinical experience. This article mainly introduces the research progress and related work of colorectal polyposis syndrome in China.
遗传性肿瘤综合征的发病机制、临床表型、治疗策略及家族管理与散发性肿瘤不同。近四分之一的结直肠癌患者表现出显著的家族聚集性和遗传易感性，5%至10%与明确的遗传因素相关。根据临床表型，可分为非息肉病综合征和息肉病综合征。在有明确临床症状的息肉病综合征患者中，仍有部分患者病因不明（尤其是轻度家族性腺瘤性息肉病），这是临床诊疗中的难题。因此，对于这种罕见病，迫切需要开展多中心研究，完善基因变异谱，探索新的致病因素，积累临床经验。本文主要介绍中国结直肠息肉病综合征的研究进展及相关工作。
