MUTYH-associated polyposis

MUTYH-associated polyposis 

Updated: 03/02/2021

© Jun Wang, MD, PhD

General features
Pathogenesis
Clinical presentations
  • Multiple colon polyps, usually less than 100, by age 50 to 60
  • Extracolonic presentations
    • Polyps may be seen in other organs, such as stomach and small intestine
    • Osteoma
    • Sebaceous hyperplasia or adenoma, etc
Pathological features
  • Primarily adenoma
  • Severe dysplasia at early age
Genetic abnormalities
  • MUTYH
Diagnosis
  • Suspicious presentations
    • Cumulative 10 or more colorectal adenomas
    • Colorectal adenoma with extracolic features of FAP
  • Genetic testing for MYH


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Contents

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