Syngal S, Weeks J C, Schrag D, Garber J E, Kuntz K M
Brigham and Women's Hospital, and Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA.
Ann Intern Med. 1998 Nov 15;129(10):787-96. doi: 10.7326/0003-4819-129-10-199811150-00007.
Predisposition genetic testing is now possible for many hereditary cancer syndromes, including hereditary nonpolyposis colorectal cancer. The optimal management of the elevated risk for cancer in carriers of mutations for hereditary nonpolyposis colorectal cancer is unclear.
To assess the life expectancy and quality-adjusted life expectancy benefits derived from endoscopic surveillance and prophylactic colectomy for persons who carry a mutation associated with hereditary nonpolyposis colorectal cancer.
Decision analysis model. Lifetime risk for colorectal cancer, efficacy of surveillance and colectomy, stage-specific colorectal cancer mortality, and quality of life were included in the model.
Decision about a cancer prevention strategy at the time of a positive result on genetic testing.
Carriers of a mutation for hereditary nonpolyposis colorectal cancer who were 25 years of age.
Immediate prophylactic colectomy; delayed colectomy on the basis of age, adenoma, or diagnosis of colorectal cancer; and endoscopic surveillance. Prophylactic surgical options were proctocolectomy with ileoanal anastomosis and subtotal colectomy with ileorectal anastomosis.
Life expectancy and quality-adjusted life expectancy.
All risk-reduction strategies led to large gains in life expectancy for carriers of a mutation for hereditary nonpolyposis colorectal cancer, with benefits ranging from 13.5 years for surveillance to 15.6 years for prophylactic proctocolectomy at 25 years of age compared with no intervention. The benefits of colectomy compared with surveillance decreased with increasing age and were minimal if colectomy was performed at the time of colorectal cancer diagnosis. When health-related quality of life was considered, surveillance led to the greatest quality-adjusted life expectancy benefit (3.1 years compared with proctocolectomy and 0.3 years compared with subtotal colectomy).
Colonoscopic surveillance is an effective method of reducing risk for cancer in carriers of a mutation for hereditary nonpolyposis colorectal cancer. The individual patient's choice between prophylactic surgery and surveillance is a complex decision in which personal preferences weigh heavily.
现在对于许多遗传性癌症综合征，包括遗传性非息肉病性结直肠癌，进行易感性基因检测已成为可能。遗传性非息肉病性结直肠癌突变携带者患癌风险升高的最佳管理方式尚不清楚。
评估内镜监测和预防性结肠切除术对携带遗传性非息肉病性结直肠癌相关突变者预期寿命和质量调整预期寿命的益处。
决策分析模型。模型纳入了结直肠癌的终生风险、监测和结肠切除术的疗效、特定分期结直肠癌死亡率以及生活质量。
在基因检测结果呈阳性时对癌症预防策略做出决策。
25岁的遗传性非息肉病性结直肠癌突变携带者。
立即进行预防性结肠切除术；根据年龄、腺瘤或结直肠癌诊断结果延迟进行结肠切除术；以及内镜监测。预防性手术选择包括回肠肛管吻合术的全直肠系膜切除术和回肠直肠吻合术的次全结肠切除术。
预期寿命和质量调整预期寿命。
所有降低风险策略均使遗传性非息肉病性结直肠癌突变携带者的预期寿命大幅增加，与不进行干预相比，25岁时监测的益处为13.5年，预防性全直肠系膜切除术的益处为15.6年。与监测相比，结肠切除术的益处随着年龄增长而降低，如果在结直肠癌诊断时进行结肠切除术，益处则微乎其微。当考虑与健康相关的生活质量时，监测带来的质量调整预期寿命益处最大（与全直肠系膜切除术相比为3.1年，与次全结肠切除术相比为0.3年）。
结肠镜监测是降低遗传性非息肉病性结直肠癌突变携带者患癌风险有效的方法。个体患者在预防性手术和监测之间的选择是一个复杂的决策，个人偏好起着重要作用。
