MUTYH-associated polyposis - colorectal phenotype and management

Area of Science:

• Gastroenterology
• Oncology
• Genetics

Background:

• MUTYH-associated polyposis (MAP) is an inherited condition.
• Understanding its clinical course is vital for patient management.

Purpose of the Study:

• To investigate the clinical presentation, management strategies, and outcomes of patients with MUTYH-associated polyposis (MAP).

Main Methods:

• A prospectively maintained database was utilized to identify and collect data on 134 patients with MAP.
• Data included demographics, germline mutations, surgical interventions, tumor histopathology, and endoscopic surveillance details.

Main Results:

• The majority of 134 MAP patients presented symptomatically, with 68 developing colorectal cancer at a median age of 47 years, often with fewer than 10 adenomas.
• Surgery was the primary management for most (108 patients), while endoscopic surveillance alone in 25 patients resulted in no cancers.
• Segmental resection with postoperative surveillance still carried a risk of metachronous cancer (17%).

Conclusions:

• Consider MUTYH testing for cancers with <10 adenomas.
• Extended surgery is recommended for primary colorectal cancers if high-quality postoperative endoscopic surveillance is unavailable.
• Endoscopic therapy can be a safe and effective option for select MAP patients managed by experts.