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
To read this article in full you will need to make a payment
Purchase one-time access:
PDF Download and 24 Hours Online AccessSubscribe:
Subscribe to Clinical Colorectal CancerAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Colonic polyps and polyposis syndromes in pediatric patients.Curr Opin Pediatr. 2015; 27: 634-641
- Pediatric and congenital colorectal diseases in the adult patient: current approaches to pediatric polyposis syndromes.Clin Colon Rectal Surg. 2018; 31: 132-142
- Genetic predisposition to colorectal cancer.Nat Rev Cancer. 2004; 4: 769-780
- Clinical management and genetics of gastrointestinal polyps in children.J Pediatr Gastroenterol Nutr. 2000; 31: 469-479
- Lynch syndrome: a pediatric perspective.J Pediatr Gastroenterol Nutr. 2014; 58: 144-152
- Inherited colorectal cancer syndromes.Clin Colon Rectal Surg. 2009; 22: 198-208
- Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer.J Pediatr. 2001; 138: 629-635
- KRAS mutation in colon cancer: a marker of resistance to EGFR-I therapy.Ann Surg Oncol. 2010; 17: 1168-1176
- BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer.Clin Cancer Res. 2004; 10: 191-195
- Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations.Fam Cancer. 2012; 11: 667-669
- Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes: the worst of two worlds.Gut. 2003; 52: 898-899
- Double frameshift mutations in APC and MSH2 in the same individual.Int J Colorectal Dis. 2005; 20: 466-470
- ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes.Am J Gastroenterol. 2015; 110: 223-262
- American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes.Gastrointest Endosc. 2020; 91: 963-982
- Familial adenomatous polyposis.Am J Gastroenterol. 2006; 101: 385-398
- Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.Crit Rev Oncol Hematol. 2007; 61: 153-161
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.
