Table 12. Clinical Practice Guidelines for the Diagnosis of Colon Cancer in Familial Juvenile Polyposis Syndrome (JPS)
| Organization/ Author | SMAD4/BMPR1A Testing Recommendeda | Age Screening Initiated | Frequency | Method | Comment |
| ACGBI | 15–18 yb | 1–2 y | C or FS + BE | Gene carriers and affected surveillance until age 70 y and discussion of prophylactic surgery | |
| Brosens et al. [442] | Yes, genetic testing preferred over colonoscopy | 15 y or at symptoms | Yearly until polyp free then every 2–3 y | C | Prophylactic surgery if >50–100 polyps, unable to manage endoscopically, severe GI bleeding, JPS with adenomatous changes, strong family history of CRC |
| NCCN [84] | No specific recommendation | ~15 y | 2–3 y or 1 y if polyps are found | C | Refer to specialized team |
| Zbuk and Eng [443] | 15 y | 3 y | C, EGD | Some families with SMAD4 mutation also have HHT; these individuals may need to be screened for HHT |
| ACGBI = 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., MLPA), if no mutation found by sequencing.[444] | |||||
| bYounger, if patient has presented with symptoms. |
References
- National Comprehensive Cancer Network.: NCCN Clinical Practice Guidelines in Oncology: Colorectal Cancer Screening. Version 2.2012. Rockledge, PA: National Comprehensive Cancer Network, 2012. Available online with free registration. Last accessed February 04, 2013.
- Brosens LA, van Hattem WA, Jansen M, et al.: Gastrointestinal polyposis syndromes. Curr Mol Med 7 (1): 29-46, 2007. [PUBMED Abstract]
- Zbuk KM, Eng C: Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol 4 (9): 492-502, 2007. [PUBMED Abstract]
- 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]
