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Genetics of Colorectal Cancer (PDQ®)

  • Updated: 10/10/2014

Table 15. Published Recommendations for Diagnosis and Surveillance of Juvenile Polyposis Syndrome (JPS)

Organization/ Author SMAD4/BMPR1A Testing Recommendeda Age Screening Initiated Frequency Method Comment 
ACPGBI (2007)15–18 yb1–2 yC or FS + BESurveillance for gene carriers and affected until age 70 y and discussion of prophylactic surgery.
Cleveland Clinic (2007) [525]15 y3 yC, EGDSome families with SMAD4 mutation also have HHT; these individuals may need to be screened for HHT.
Johns Hopkins (2007) [524]Yes, genetic testing preferred over colonoscopy15 y or at onset of symptomsYearly until polyp free then every 2–3 yCProphylactic surgery if >50–100 polyps, unable to manage endoscopically, severe GI bleeding, JPS with adenomatous changes, strong family history of CRC.
St. Mark's (2012) [481]Yes, genetic testing at age 4 y12 y1–3 y based on severityC, EGDConsider HHT workup.
NCCN (2014) [92]Yes~15 y2–3 y or 1 y if polyps are foundCRefer to specialized team.

ACPGBI = Association of Coloproctology of Great Britain and Ireland; BE = barium enema; C = colonoscopy; CRC = colorectal cancer; EGD = esophagogastroduodenoscopy; FS = flexible sigmoidoscopy; GI = gastrointestinal; HHT = hereditary hemorrhagic telangiectasia; NCCN = National Comprehensive Cancer Network.
a SMAD4/BMPR1A mutation analysis includes sequencing followed by analysis for deletions (e.g., multiplex ligation-dependent probe amplification), if no mutation found by sequencing.[496]
bYounger, if patient has presented with symptoms.

References

  1. National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Colorectal. Version 2.2014. Rockledge, PA: National Comprehensive Cancer Network, 2014. Available online with free registration. Last accessed June 17, 2014. 

  2. Latchford AR, Neale K, Phillips RK, et al.: Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. Dis Colon Rectum 55 (10): 1038-43, 2012.  [PUBMED Abstract]

  3. Calva-Cerqueira D, Chinnathambi S, Pechman B, et al.: The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet 75 (1): 79-85, 2009.  [PUBMED Abstract]

  4. Brosens LA, van Hattem WA, Jansen M, et al.: Gastrointestinal polyposis syndromes. Curr Mol Med 7 (1): 29-46, 2007.  [PUBMED Abstract]

  5. Zbuk KM, Eng C: Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol 4 (9): 492-502, 2007.  [PUBMED Abstract]