MUTYH Associated Polyposis
Supplemental Studies
Immunohistology
- One report shows sensitive and specific staining for MUTYH protein
- Normal patients show cytoplasmic and nuclear staining
- Patients with biallelic germline mutations show granular cytoplasmic staining but negative nuclei
- Apical and/or subapical cytoplasm stains
- Both normal and neoplastic tissue show this pattern
Genetic testing
- PCR analysis employed to determine presence of mutations in MUTYH gene
