Surgical Pathology Criteria

MUTYH Associated Polyposis

Differential Diagnosis

MUTYH Associated Polyposis Attenuated Familial Adenomatous Polyposis
Germline mutation detected in MUTYH gene No MUTYH mutation
No germline APC mutation May have detectable APC mutation (10% of cases)
Autosomal recessive Autosomal dominant
18-30% of APC mutation negative attenuated FAP may instead be due to MUTYH mutation

 

MUTYH Associated Polyposis HNPCC
Family history of polyps and colorectal carcinoma only May have family history of characteristic associated neoplasms
Duodenal adenoma in 18% Duodenal adenoma rare
Germline mutation detected in MUTYH gene No MUTYH mutation
No evidence of mismatch repair deficiency Genetic and immunohistologic evidence of mismatch repair deficiency
Autosomal recessive Autosomal dominant
MUTYH associated polyposis may be very difficult to distinguish clinically from HNPCC as it has fewer adenomas and later presentation and frequent right sided carcinoma

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