Polyposis and colorectal cancer in children can have various nonspecific presentations
such as abdominal pain, unexplained anemia, and weight loss. Polyps in children in
the absence of an underlying genetic polyposis syndrome are most often benign solitary
hamartomas; however, adenomas can occur and could signal increased risk for malignancy
or an underlying genetic cancer syndrome. Familial adenomatous polyposis (FAP) occurs
with mutations in the adenomatous polyposis coli (APC) tumor suppressor gene; whereas
Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC) mutations,
often involve DNA mismatch repair (MMR) genes, such as MLH1, MSH2, MSH6, or PMS2.
1
FAP is a colorectal cancer syndrome characterized by a notably large colonic polyp
burden. FAP is the most common childhood polyposis syndrome, occurring in 1 to 3 per
100,000; it will progress to malignancy 100% of the time in adults if left untreated.
1
,2
This syndrome can be inherited or be the result of sporadic mutations in 10% to 30%
of cases.
3
,4
Keywords
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Article Info
Publication History
Published online: February 18, 2021
Accepted:
February 14,
2021
Received in revised form:
January 26,
2021
Received:
December 7,
2020
Identification
Copyright
© 2021 Elsevier Inc. All rights reserved.
