Haider Mahnur, Masood Muaaz, Katona Bryson W, Burke Carol A, Mankaney Gautam N
Department of Internal Medicine, Tulane University, New Orleans, LA 70112, USA.
Department of Gastroenterology & Hepatology, Virginia Mason Franciscan Health, Seattle, WA 98101, USA.
Diagnostics (Basel). 2025 May 12;15(10):1218. doi: 10.3390/diagnostics15101218.
Familial adenomatous polyposis (FAP) is the most common hereditary colorectal adenomatous polyposis and cancer syndrome which has historically been associated with a near absolute risk of colorectal cancer. However, the morbidity and mortality from colorectal cancer has been greatly diminished by pre-symptomatic genetic testing which identifies affected individuals and by appropriately timed, risk-reducing surgery of the colorectum. Following colorectal surgery, cancer risk beyond the retained rectum or ileal pouch includes other gastrointestinal organs, especially those of the upper gastrointestinal tract. While genotype-phenotype correlations exist for the severity of colonic polyposis, they have not been demonstrated for upper gastrointestinal tract manifestations. We reviewed the impact of ethnicity on the upper gastrointestinal manifestations of FAP by a comparison of published data in patients with FAP from Asian and Western countries. Our main findings demonstrate that following risk-reducing surgery to mitigate colorectal cancer risk, patients with FAP remain at increased risk for upper gastrointestinal polyposis and cancer. The duodenal and gastric phenotype differs between patients with FAP from the West and the East, and all should be followed in a multidisciplinary surveillance program. Following risk-reducing surgery to mitigate colorectal cancer risk, patients with familial adenomatous polyposis remain at increased risk for upper gastrointestinal polyposis and cancer. The duodenal and gastric phenotype differs between patients with FAP from the West and the East, and all should be followed in a multidisciplinary surveillance program.
家族性腺瘤性息肉病(FAP)是最常见的遗传性结直肠腺瘤性息肉病和癌症综合征,历史上一直与结直肠癌的近乎绝对风险相关。然而,通过识别受影响个体的症状前基因检测以及对结肠进行适时的降低风险手术,结直肠癌的发病率和死亡率已大幅降低。结直肠手术后,保留的直肠或回肠袋以外的癌症风险包括其他胃肠道器官,尤其是上消化道器官。虽然结肠息肉病的严重程度存在基因型-表型相关性,但在上消化道表现方面尚未得到证实。我们通过比较亚洲和西方国家FAP患者的已发表数据,回顾了种族对FAP上消化道表现的影响。我们的主要研究结果表明,在进行降低风险手术以减轻结直肠癌风险后,FAP患者上消化道息肉病和癌症的风险仍然增加。来自西方和东方的FAP患者的十二指肠和胃表型不同,所有患者都应纳入多学科监测计划。在进行降低风险手术以减轻结直肠癌风险后,家族性腺瘤性息肉病患者上消化道息肉病和癌症的风险仍然增加。来自西方和东方的FAP患者的十二指肠和胃表型不同,所有患者都应纳入多学科监测计划。