Description

The objectives of this expert review are: (1) to prepare clinicians to recognize the presentation and evidence-based risk factors for young adult–onset colorectal cancer (CRC), defined as CRC diagnosed in individuals 18 - <50 years of age; (2) to improve management for patients with young onset CRC. This review will focus on the following topics relevant to young adult–onset CRC: epidemiology and risk factors; clinical presentation; diagnostic and therapeutic management including options for colorectal and extra-colonic surgical intervention, chemotherapy and immune-oncology therapies; genetic testing and its potential impact on preimplantation genetics; fertility preservation; and cancer surveillance recommendations for these individuals and their family members.

Methods

The evidence reviewed in this manuscript is a summation of relevant scientific publications, expert opinion statements, and current practice guidelines.

Best Practice Advice 1

With the rising incidence of people developing CRC before 50 years of age, diagnostic evaluation of the colon and rectum is encouraged for all patients, irrespective of age, who present with symptoms that may be consistent with CRC, including but not limited to: rectal bleeding, weight loss, change in bowel habit, abdominal pain, iron deficiency anemia.

Best Practice Advice 2

Clinicians should obtain family history of colorectal and other cancers in first and second degree relatives of patients with young adult–onset CRC and discuss genetic evaluation with germline genetic testing either in targeted genes based on phenotypic presentation or in multiplex gene panels regardless of family history.

Best Practice Advice 3

Clinicians should present the role of fertility preservation prior to cancer-directed therapy including surgery, pelvic radiation, or chemotherapy

Best Practice Advice 4

Clinicians should counsel patients on the benefit of germline genetic testing and familial cancer panel testing in the pre-surgical period to inform which surgical options may be available to the patient with young adult–onset CRC

Best Practice Advice 5

Clinicians should consider utilizing germline and somatic genetic testing results to inform chemotherapeutic strategies

Best Practice Advice 6

Clinicians should offer hereditary CRC syndrome specific screening for CRC and extra-colonic cancers only to young adult–onset CRC patients who have a genetically or clinically diagnosed hereditary CRC syndrome. For patients with sporadic young adult–onset CRC, extra-colonic screening and CRC surveillance intervals are the same as for patients with older adult–onset CRC.

中文翻译：

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AGA 年轻成人大肠癌诊断和管理的临床实践更新：专家审查。

说明

本专家审查的目的是：(1) 使临床医生做好准备，以识别年轻成人发病的结直肠癌 (CRC) 的表现和循证风险因素，CRC 定义为在 18 - <50 岁的个体中诊断出的 CRC；(2)改善对年轻发病CRC患者的管理。本综述将重点关注以下与年轻成人发病的 CRC 相关的主题：流行病学和危险因素；临床表现; 诊断和治疗管理，包括结肠直肠和结肠外手术干预、化学疗法和免疫肿瘤疗法的选择；基因检测及其对植入前遗传学的潜在影响；生育力保存；以及针对这些个人及其家庭成员的癌症监测建议。

方法

本手稿中审查的证据是相关科学出版物、专家意见陈述和当前实践指南的总结。

最佳实践建议 1

随着 50 岁之前发展为 CRC 的发病率不断上升，鼓励对所有出现可能与 CRC 一致的症状的患者进行结肠和直肠的诊断性评估，无论年龄大小，包括但不限于：直肠出血，体重减轻，排便习惯改变，腹痛，缺铁性贫血。

最佳实践建议 2

临床医生应获取年轻成人 CRC 患者的一级和二级亲属的结直肠癌和其他癌症家族史，并讨论基于表型表现的靶基因或不考虑家族史的多重基因组中的种系基因检测进行遗传评估。

最佳实践建议 3

临床医生应在针对癌症的治疗（包括手术、盆腔放疗或化疗）之前展示保留生育能力的作用

最佳实践建议 4

临床医生应在术前就生殖系基因检测和家族性癌症面板检测的益处向患者提供咨询，以告知年轻成人发病的 CRC 患者可以选择哪些手术方案

最佳实践建议 5

临床医生应考虑利用种系和体细胞基因检测结果为化疗策略提供信息

最佳实践建议 6

临床医生应仅向患有遗传性或临床诊断的遗传性 CRC 综合征的年轻成人 CRC 患者提供 CRC 和结肠外癌的遗传性 CRC 综合征特异性筛查。对于散发性青壮年发病的 CRC 患者，结肠外筛查和 CRC 监测间隔与老年发病的 CRC 患者相同。