MUTYH-Associated Polyposis

How to Cite This Chapter: McKechnie T, Talwar G, Eskicioglu C, Reguła J, Bugajski M, Szczepanek M. MUTYH-Associated Polyposis. McMaster Textbook of Internal Medicine. Kraków: Medycyna Praktyczna. https://empendium.com/mcmtextbook/chapter/B31.II.4.72.6.5.3. Accessed December 03, 2024.
Last Updated: July 12, 2023
Last Reviewed: July 12, 2023
Chapter Information

DefinitionTop

MUTYH-associated polyposis (MAP) is an autosomal recessive polyposis caused by a germline mutation (mutation at the stage of generation of reproductive cells) of both alleles of the MUTYH gene. The course is similar to that observed in the mild form of familial adenomatous polyposis (attenuated familial adenomatous polyposis [AFAP]): 10 to 100 polyps in the large intestine (mainly adenomas, but also hyperplastic and serrated polyps), usually from the second or third decade of life.

SurveillanceTop

In patients with a mutation in both alleles, colonoscopy should be performed every 1 to 2 years starting at the age of 18 to 20 years, and gastroscopy with a side-viewing endoscope, every 1 to 5 years (depending on the changes found; Spigelman criteria: see Familial Adenomatous Polyposis) starting at the age of 25 to 30 years. The decision about colectomy/proctocolectomy should be made individually. Relatives should undergo genetic testing.

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