遗传性结直肠癌综合征:美国临床肿瘤学会临床实践指南对家族性结直肠癌风险的认可:欧洲肿瘤内科学会临床实践指南。
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.
机构信息
Elena M. Stoffel, University of Michigan, Ann Arbor, MI; Pamela B. Mangu, American Society of Clinical Oncology; Nancy Roach, Fight Colorectal Cancer, Alexandria, VA; Stephen B. Gruber, University of Southern California, Los Angeles, CA; Stanley R. Hamilton and Karen H. Lu, University of Texas MD Anderson Cancer Center, Houston, TX; Matthew F. Kalady, Cleveland Clinic, Cleveland, OH; Michelle Wan Yee Lau, Integrated Medical Services Four Winds Hematology and Oncology, Tempe, AZ; and Paul J. Limburg, Mayo Clinic, Rochester, MN.
出版信息
J Clin Oncol. 2015 Jan 10;33(2):209-17. doi: 10.1200/JCO.2014.58.1322. Epub 2014 Dec 1.
PURPOSE
To provide recommendations on prevention, screening, genetics, treatment, and management for people at risk for hereditary colorectal cancer (CRC) syndromes. The American Society of Clinical Oncology (ASCO) has a policy and set of procedures for endorsing clinical practice guidelines that have been developed by other professional organizations.
METHODS
The Familial Risk-Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guideline published in 2013 on behalf of the European Society for Medical Oncology (ESMO) Guidelines Working Group in Annals of Oncology was reviewed for developmental rigor by methodologists, with content and recommendations reviewed by an ASCO endorsement panel.
RESULTS
The ASCO endorsement panel determined that the recommendations of the ESMO guidelines are clear, thorough, and based on the most relevant scientific evidence. The ASCO panel endorsed the ESMO guidelines and added a few qualifying statements.
RECOMMENDATIONS
Approximately 5% to 6% of patient cases of CRC are associated with germline mutations that confer an inherited predisposition for cancer. The possibility of a hereditary cancer syndrome should be assessed for every patient at the time of CRC diagnosis. A diagnosis of Lynch syndrome, familial adenomatous polyposis, or another genetic syndrome can influence clinical management for patients with CRC and their family members. Screening for hereditary cancer syndromes in patients with CRC should include review of personal and family histories and testing of tumors for DNA mismatch repair deficiency and/or microsatellite instability. Formal genetic evaluation is recommended for individuals who meet defined criteria.
目的
为遗传性结直肠癌(CRC)综合征高危人群提供预防、筛查、遗传学、治疗和管理建议。美国临床肿瘤学会(ASCO)有一项政策和一套程序,用于认可由其他专业组织制定的临床实践指南。
方法
2013 年,代表欧洲医学肿瘤学会(ESMO)指南工作组在《肿瘤学年鉴》上发表的《家族性结直肠癌风险:欧洲医学肿瘤学会临床实践指南》,由方法学家对其发展严谨性进行了审查,并由 ASCO 认可小组对其内容和建议进行了审查。
结果
ASCO 认可小组确定,ESMO 指南的建议明确、全面,并基于最相关的科学证据。ASCO 小组认可了 ESMO 指南,并添加了一些限定性陈述。
建议
CRC 患者中约有 5%至 6%与导致癌症遗传易感性的种系突变有关。在 CRC 诊断时,应评估每位患者是否存在遗传性癌症综合征的可能性。林奇综合征、家族性腺瘤性息肉病或其他遗传综合征的诊断可影响 CRC 患者及其家庭成员的临床管理。CRC 患者的遗传性癌症综合征筛查应包括个人和家族史的审查,以及对肿瘤的 DNA 错配修复缺陷和/或微卫星不稳定性检测。建议对符合明确标准的个体进行正式的遗传评估。