Vasen H F
Stichting Opsporing Erfelijke Tumoren, p/a Academisch Ziekenhuis, Leiden.
Ned Tijdschr Geneeskd. 1994 Jan 8;138(2):77-81.
To determine characteristics of hereditary nonpolyposis colorectal cancer (HNPCC) and the implications for screening and treatment.
Longitudinal.
Nationwide.
Genealogic studies were performed in 114 families referred to the Netherlands Foundation for Detection of Hereditary Tumours because of a suspected inherited form of colorectal cancer.
Forty-one families met the criteria for HNPCC: These families included 194 patients with colorectal cancer (84 females and 110 males). The mean age at diagnosis was 44 years (range: 16-74). In 92% the tumour was diagnosed before the age of 60 years. Fifty-eight per cent were located in the proximal colon. Twenty-three per cent of the patients had multiple primary colorectal cancer. The cumulative risk of developing a second colorectal cancer was 23% after 10 years of follow up. Cancer of the endometrium, stomach and urinary tract were the most frequent extracolonic cancers.
Periodic examination of first-degree relatives of patients from HNPCC families should start between the ages of 20 and 25 years. The recommended interval between consecutive examinations is 2-3 years. After the age of 60 years screening may be performed at a lower frequency. The right colon in particular should be investigated. A subtotal colectomy is indicated at the time of diagnosis of the initial colon cancer, because of the risk of multiple primary tumours.
确定遗传性非息肉病性结直肠癌（HNPCC）的特征及其对筛查和治疗的意义。
纵向研究。
全国范围。
对因疑似遗传性结直肠癌而转诊至荷兰遗传性肿瘤检测基金会的114个家庭进行了系谱研究。
41个家庭符合HNPCC标准：这些家庭包括194例结直肠癌患者（84名女性和110名男性）。诊断时的平均年龄为44岁（范围：16 - 74岁）。92%的肿瘤在60岁之前被诊断出来。58%位于近端结肠。23%的患者患有多发性原发性结直肠癌。随访10年后发生第二例结直肠癌的累积风险为23%。子宫内膜癌、胃癌和泌尿系统癌是最常见的结肠外癌症。
HNPCC家庭患者的一级亲属应在20至25岁之间开始定期检查。建议连续检查之间的间隔为2 - 3年。60岁以后，筛查频率可降低。尤其应检查右半结肠。由于存在多发性原发性肿瘤的风险，在初次结肠癌诊断时应行次全结肠切除术。
