MUTYH-associated polyposis
MUTYH-associated polyposis
Updated: 03/02/2021
© Jun Wang,
MD, PhD
General features
- AKA MYH-associated polyposis
- Autosomal recessive
- Considered a mild form of familial adenomatous polyposis
- Biallelic mutation of MUTYH gene (DNA mismatch repair)
- Less 1% of patients with colorectal cancer
- MUTYH mutation results in mutation of other genes, including APC and KRAS
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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