S3822 Counting What Counts: Adenoma Thresholds as a Path to Early Detection

Introduction: Attenuated familial adenomatous polyposis (AFAP) is an inherited condition that increases risk for colorectal cancer (CRC) by causing multiple polyps to develop in the colon and rectum. While there are other polyposis syndromes, such as FAP, MUTYH-Associated Polyposis (MAP), Lynch Syndrome and Peutz-Jeghers Syndrome. AFAP typically presents with fewer polyps and a subtler onset when compared to other polyposis syndromes. When >10 adenomas are present on single colonoscopy or >20 lifetime adenomas, genetic testing is recommended to assess for hereditary polyposis, as early identification may significantly reduce CRC-related mortality. Case Description/Methods: Patient 1 is a 47-year-old woman who underwent routine colonoscopy. The exam revealed 13 polyps with 11 tubular adenomas (TAs), 1 tubulovillous adenoma (TVA), and 1 hyperplastic polyp (HP). Suspicion for polyposis syndrome was raised, and she was referred for genetic testing with plan for repeat colonoscopy in 1 year. Patient 2 is a 65-year-old man who underwent routine colonoscopy. Colonoscopy revealed 11 polyps in various parts of the colon, with 2 with portions of TA and TVA; 4 with portions of TA, TVA, and HP; 2 TAs; 3 TVAs. Due to the numerous adenomas found, the patient was discharged with plan for repeat colonoscopy in 3 months and referred to genetic testing. Patient 3 is a 69-year-old woman who underwent colonoscopy following a positive Cologuard test. She was asymptomatic and had no prior colonoscopies. Colonoscopy revealed 14 polyps with 3 TAs and TVAs; 8 TAs, TVAs, and HPs, and 2 TVAs. The patient was discharged with plan for repeat colonoscopy in 3 months and referred to genetic testing. Discussion: These cases highlight the need for physicians to be able to recognize when the polyp burden is suggestive of a genetic condition. Certain polyposis syndromes may lack strong family histories, requiring clinicians to rely on polyp count and histology. Current guidelines suggest genetic testing when >10 cumulative adenomas are found, even in the absence of symptoms. Surveillance colonoscopy can reduce CRC mortality by over 60%, and adenoma removal may prevent up to 92% of future CRC-related deaths, as reported by the national cancer institute. Referral to genetic counseling remains underutilized, however, with only 8% of eligible patients being referred. Increased awareness and earlier detection can lead to preventive interventions and significantly improve outcomes in patients with numerous polyps.