Short-Term Risk of Colorectal Cancer in Individuals With Lynch Syndrome: A Meta-Analysis
Short-Term Risk of Colorectal Cancer in Individuals With Lynch Syndrome: A Meta-Analysis
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DOI：
10.1200/jco.2014.55.8536
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发表时间：
2015-02-01
影响因子：
45.3
通讯作者：
Win, Aung Ko
中科院分区：
文献类型：
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作者：
Jenkins, Mark A.;Dowty, James G.;Win, Aung Ko
目的 对于 DNA 错配修复基因种系突变的携带者，与癌症预防最相关的统计数据是结直肠癌（林奇综合征）风险，特别是在短期内。方法我们对所有报告年龄和性别依赖性结直肠癌风险的独立发表的林奇综合征研究进行了荟萃分析。我们分别估计了男性和女性突变携带者在不同年龄组的 5 年结直肠癌风险，以及为防止死亡而需要筛查的人数。结果我们汇总了对 1,114 个林奇综合征家族（508 个具有 MLH1 突变，606 个具有 MSH2 突变）分析的估计值。平均而言，20 多岁的 MLH1 或 MSH2 突变携带者中，每 71 名男性和 102 名女性中就有 1 人将在未来 5 年内被诊断出患有结直肠癌。这些结直肠癌的风险随着年龄的增长而增加，在 50 多岁时达到顶峰（七分之一的男性和十二分之一的女性），然后随着年龄的增长而降低（七十多岁的时候有十分之一的男性和十九分之一的女性）。每年对 16 名 50 多岁的男性或 25 名女性进行结肠镜检查，可以在 5 年内防止一名结直肠癌死亡，同时几乎不会导致严重并发症。相比之下，每年对 155 名 20 多岁男性或 217 名女性进行结肠镜检查可以避免一名死亡，同时导致大约一种严重并发症。结论对于 MLH1 或 MSH2 突变携带者，目前的指南建议从 20 多岁开始每 1 至 2 年进行一次结肠镜检查。我们的研究结果支持从 30 岁开始就采取这种养生法；然而，对于 20 多岁的运营商来说，这可能不合理。 (C) 2014 年美国临床肿瘤学会
Purpose For carriers of germline mutations in DNA mismatch repair genes, the most relevant statistic for cancer prevention is colorectal cancer (Lynch syndrome) risk, particularly in the short term.MethodsWe conducted a meta-analysis of all independent published Lynch syndrome studies reporting age-and sex-dependent colorectal cancer risks. We estimated 5-year colorectal cancer risk over different age groups, separately for male and female mutation carriers, and number needed to screen to prevent one death.ResultsWe pooled estimates from analyses of 1,114 Lynch syndrome families (508 with MLH1 mutations and 606 with MSH2 mutations). On average, one in 71 male and one in 102 female MLH1 or MSH2 mutation carriers in their 20s will be diagnosed with colorectal cancer in the next 5 years. These colorectal cancer risks increase with age, peaking in the 50s (one in seven males and one in 12 females), and then decrease with age (one in 13 males and one in 19 females in their 70s). Annual colonoscopy in 16 males or 25 females in their 50s would prevent one death from colorectal cancer over 5 years while resulting in almost no serious complications. In comparison, annual colonoscopy in 155 males or 217 females in their 20s would prevent one death while resulting in approximately one serious complication.ConclusionFor MLH1 or MSH2 mutation carriers, current guidelines recommend colonoscopy every 1 to 2 years starting in their 20s. Our findings support this regimen from age 30 years; however, it might not be justifiable for carriers who are in their 20s. (C) 2014 by American Society of Clinical Oncology