Centre for Colorectal Disease, St Vincent's University Hospital, Dublin, Ireland.
Department of Surgery, Middlemore Hospital, Auckland, New Zealand.
JAMA Surg. 2021 Sep 1;156(9):865-874. doi: 10.1001/jamasurg.2021.2380.
The incidence of early-onset colorectal cancer (younger than 50 years) is rising globally, the reasons for which are unclear. It appears to represent a unique disease process with different clinical, pathological, and molecular characteristics compared with late-onset colorectal cancer. Data on oncological outcomes are limited, and sensitivity to conventional neoadjuvant and adjuvant therapy regimens appear to be unknown. The purpose of this review is to summarize the available literature on early-onset colorectal cancer.
Within the next decade, it is estimated that 1 in 10 colon cancers and 1 in 4 rectal cancers will be diagnosed in adults younger than 50 years. Potential risk factors include a Westernized diet, obesity, antibiotic usage, and alterations in the gut microbiome. Although genetic predisposition plays a role, most cases are sporadic. The full spectrum of germline and somatic sequence variations implicated remains unknown. Younger patients typically present with descending colonic or rectal cancer, advanced disease stage, and unfavorable histopathological features. Despite being more likely to receive neoadjuvant and adjuvant therapy, patients with early-onset disease demonstrate comparable oncological outcomes with their older counterparts.
The clinicopathological features, underlying molecular profiles, and drivers of early-onset colorectal cancer differ from those of late-onset disease. Standardized, age-specific preventive, screening, diagnostic, and therapeutic strategies are required to optimize outcomes.
全球范围内,早发性结直肠癌(发病年龄小于 50 岁)的发病率正在上升,其原因尚不清楚。与晚发性结直肠癌相比,它似乎代表了一种独特的疾病过程,具有不同的临床、病理和分子特征。关于肿瘤学结果的数据有限,并且对常规新辅助和辅助治疗方案的敏感性似乎尚不清楚。本综述的目的是总结早发性结直肠癌的现有文献。
在未来十年内,估计每 10 例结肠癌和每 4 例直肠癌中就有 1 例将在 50 岁以下的成年人中诊断出。潜在的风险因素包括西方化的饮食、肥胖、抗生素使用和肠道微生物组的改变。尽管遗传易感性起作用,但大多数病例是散发性的。涉及的种系和体细胞序列变异的全貌尚不清楚。年轻患者通常表现为降结肠癌或直肠癌、晚期疾病阶段和不利的组织病理学特征。尽管更有可能接受新辅助和辅助治疗,但早发性疾病患者的肿瘤学结果与年龄较大的患者相当。
早发性结直肠癌的临床病理特征、潜在的分子谱和驱动因素与晚发性疾病不同。需要制定标准化的、针对特定年龄的预防、筛查、诊断和治疗策略,以优化结果。