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本文引用的文献

1
One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome.1 至 2 年的监测间隔可降低林奇综合征家族结直肠癌的风险。
Gastroenterology. 2010 Jun;138(7):2300-6. doi: 10.1053/j.gastro.2010.02.053. Epub 2010 Mar 2.
2
Risks of Lynch syndrome cancers for MSH6 mutation carriers.MSH6 突变携带者的林奇综合征癌症风险。
J Natl Cancer Inst. 2010 Feb 3;102(3):193-201. doi: 10.1093/jnci/djp473. Epub 2009 Dec 22.
3
Comparison of extended colectomy and limited resection in patients with Lynch syndrome.林奇综合征患者扩大结肠切除术与有限切除术的比较。
Dis Colon Rectum. 2010 Jan;53(1):77-82. doi: 10.1007/DCR.0b013e3181c702de.
4
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.因种系PMS2突变导致的林奇综合征的临床表型。
Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2.
5
Segmental vs. extended colectomy: measurable differences in morbidity, function, and quality of life.节段性结肠切除术与扩大性结肠切除术:发病率、功能及生活质量方面的可测量差异
Dis Colon Rectum. 2008 Jul;51(7):1036-43. doi: 10.1007/s10350-008-9325-1. Epub 2008 May 10.
6
Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer.结肠癌家族登记处:一个用于结肠癌遗传流行病学研究的国际资源。
Cancer Epidemiol Biomarkers Prev. 2007 Nov;16(11):2331-43. doi: 10.1158/1055-9965.EPI-07-0648. Epub 2007 Nov 2.
7
Accuracy of colorectal polyp self-reports: findings from the colon cancer family registry.结直肠息肉自我报告的准确性:来自结肠癌家族登记处的发现
Cancer Epidemiol Biomarkers Prev. 2007 Sep;16(9):1898-901. doi: 10.1158/1055-9965.EPI-07-0151. Epub 2007 Aug 28.
8
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).林奇综合征(遗传性非息肉病性结直肠癌)临床管理指南
J Med Genet. 2007 Jun;44(6):353-62. doi: 10.1136/jmg.2007.048991. Epub 2007 Feb 27.
9
Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review.林奇综合征遗传易感性个体的护理建议:一项系统综述
JAMA. 2006 Sep 27;296(12):1507-17. doi: 10.1001/jama.296.12.1507.
10
Prediction of germline mutations and cancer risk in the Lynch syndrome.林奇综合征中生殖系突变及癌症风险的预测
JAMA. 2006 Sep 27;296(12):1479-87. doi: 10.1001/jama.296.12.1479.

错配修复基因突变携带者的结直肠重复癌风险:更广泛结肠手术的优势。

Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery.

机构信息

New Zealand Familial GI Cancer Registry, Auckland City Hospital, New Zealand.

出版信息

Gut. 2011 Jul;60(7):950-7. doi: 10.1136/gut.2010.228056. Epub 2010 Dec 30.

DOI:10.1136/gut.2010.228056
PMID:21193451
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3848416/
Abstract

BACKGROUND

Surgical management of colon cancer for patients with Lynch syndrome who carry a mismatch repair (MMR) gene mutation is controversial. The decision to remove more or less of the colon involves the consideration of a relatively high risk of metachronous colorectal cancer (CRC) with the impact of more extensive surgery.

OBJECTIVE

To estimate and compare the risks of metachronous CRC for patients with Lynch syndrome undergoing either segmental or extensive (subtotal or total) resection for first colon cancer.

DESIGN

Risk of metachronous CRC was estimated for 382 MMR gene mutation carriers (172 MLH1, 167 MSH2, 23 MSH6 and 20 PMS2) from the Colon Cancer Family Registry, who had surgery for their first colon cancer, using retrospective cohort analysis. Age-dependent cumulative risks of metachronous CRC were calculated using the Kaplan-Meier method. Risk factors for metachronous CRC were assessed by a Cox proportional hazards regression.

RESULTS

None of 50 subjects who had extensive colectomy was diagnosed with metachronous CRC (incidence rate 0.0; 95% CI 0.0 to 7.2 per 1000 person-years). Of 332 subjects who had segmental resections, 74 (22%) were diagnosed with metachronous CRC (incidence rate 23.6; 95% CI 18.8 to 29.7 per 1000 person-years). For those who had segmental resections, incidence was statistically higher than for those who had extensive surgery (P <0.001). Cumulative risk of metachronous CRC was 16% (95% CI 10% to 25%) at 10 years, 41% (95% CI 30% to 52%) at 20 years and 62% (95% CI 50% to 77%) at 30 years after segmental colectomy. Risk of metachronous CRC reduced by 31% (95% CI 12% to 46%; p=0.002) for every 10 cm of bowel removed.

CONCLUSIONS

Patients with Lynch syndrome with first colon cancer treated with more extensive colonic resection have a lower risk of metachronous CRC than those receiving less extensive surgery. This finding will better inform decision-making about the extent of primary surgical resection.

摘要

背景

对于携带错配修复(MMR)基因突变的林奇综合征患者的结肠癌手术治疗存在争议。决定切除更多或更少的结肠涉及到考虑相对较高的结直肠肿瘤(CRC)风险,这与更广泛的手术有关。

目的

评估并比较林奇综合征患者首次结肠癌行节段或广泛(次全或全)切除术的 CRC 异时性风险。

设计

使用回顾性队列分析,从结肠癌家族登记处(Colon Cancer Family Registry)中对 382 名 MMR 基因突变携带者(172 名 MLH1、167 名 MSH2、23 名 MSH6 和 20 名 PMS2)进行了 CRC 异时性风险的估计,这些患者接受了首次结肠癌手术。使用 Kaplan-Meier 方法计算年龄相关的 CRC 异时性累积风险。使用 Cox 比例风险回归评估 CRC 异时性的危险因素。

结果

50 名接受广泛结肠切除术的患者中无一例被诊断为 CRC(发病率为 0.0;95%CI 0.0 至 7.2/1000 人年)。在 332 名接受节段切除术的患者中,74 名(22%)被诊断为 CRC(发病率为 23.6;95%CI 18.8 至 29.7/1000 人年)。对于接受节段切除术的患者,发病率明显高于接受广泛手术的患者(P <0.001)。节段性结肠切除术后 10 年 CRC 异时性的累积风险为 16%(95%CI 10%至 25%),20 年为 41%(95%CI 30%至 52%),30 年为 62%(95%CI 50%至 77%)。每切除 10cm 肠管,CRC 异时性的风险降低 31%(95%CI 12%至 46%;p=0.002)。

结论

对于首次患有结肠癌的林奇综合征患者,行更广泛的结肠切除术治疗的 CRC 异时性风险低于接受不广泛手术的患者。这一发现将更好地为主要手术切除范围的决策提供依据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76e2/3848416/6857f21e830b/nihms524541f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76e2/3848416/6857f21e830b/nihms524541f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76e2/3848416/6857f21e830b/nihms524541f1.jpg