Department of Internal Medicine, Division of Gastroenterology & Hepatology, Saint Louis University School of Medicine, Saint Louis, Missouri, USA.
Department of Medicine, Division of Gastroenterology and Liver Disease, University Hospitals Cleveland Medical Center, Cleveland, Ohio, USA.
Pediatr Pulmonol. 2024 Sep;59 Suppl 1:S91-S97. doi: 10.1002/ppul.27060.
Advances in treatment for cystic fibrosis (CF), including cystic fibrosis transmembrane conductor regulator (CFTR) modulators, have ushered in an era where patients with CF have much longer life expectancies. This shift in life expectancy demands increased attention to diseases of aging in patients with CF. A notable complication of CF is early-onset colorectal cancer (CRC), which is especially prevalent in patients with severe mutations and after transplant. CFTR acts as a tumor suppressor gene based on knockout models. Lack of CFTR expression promotes carcinogenic processes such as intestinal inflammation and deleterious gut microbiome changes. The consensus Cystic Fibrosis Foundation recommendations advocate treating this population as a high-risk group, using a colonoscopy-only screening strategy starting at age 40 in patients without transplant and at age 30 after transplant. Screening should be considered every 5 years if negative and every 3 years or sooner for patients with adenomatous polyps. Future research will determine the role of noninvasive CRC screening tools in this population, as well as the effects of CFTR modulators on the risk of developing CRC.
囊性纤维化（CF）治疗方法的进步，包括囊性纤维化跨膜传导调节因子（CFTR）调节剂的出现，迎来了 CF 患者预期寿命大大延长的时代。这种预期寿命的变化要求增加对 CF 患者老年疾病的关注。CF 的一个显著并发症是早发性结直肠癌（CRC），在严重突变和移植后患者中尤为普遍。CFTR 基于基因敲除模型作为肿瘤抑制基因发挥作用。CFTR 表达缺失会促进致癌过程，如肠道炎症和有害的肠道微生物组变化。基于共识的囊性纤维化基金会（Cystic Fibrosis Foundation）建议将这一人群视为高危人群，对于未接受移植的患者，从 40 岁开始，对于接受移植后的患者，从 30 岁开始，采用结肠镜检查作为唯一的筛查策略。如果结果为阴性，应每 5 年筛查一次，如果有腺瘤性息肉，则每 3 年或更短时间筛查一次。未来的研究将确定非侵入性 CRC 筛查工具在这一人群中的作用，以及 CFTR 调节剂对发生 CRC 风险的影响。
