Table 11. Clinical Practice Guidelines for the Diagnosis of Cancer in Peutz-Jeghers Syndrome
| Organization/ Author | STK11 Gene Testing Recommendeda | Age Colon Screening Initiated | Frequency | Method | Extracolonic Screening Recommendations | Comment |
| ACPGBI | 18 y | 3 y | C or FS + BE | No mention of extracolonic screening | No mention of genetic testing; need to consider STK11/LKB1 testing | |
| Brosens et al. [442] | Yes, age not specified | Late teens or at symptoms | 3 y | C | Breast, Gynecologic (Cervix, Ovaries, Uterus), Pancreas, Small Intestine, Stomach, Testes | Genetic testing at late teens or at symptoms |
| Giardiello and Trimbath [441] | Yes, at age 8 y | 18 y | 2–3 y | C | Breast, Gynecologic (Cervix, Ovaries, Uterus), Pancreas, Small Intestine, Stomach, Testes | |
| NCCN [84] | No specific recommendation | Late teens | 2–3 y | C | Breast, Gynecologic (Cervix, Ovaries, Uterus), Lungb, Pancreas, Small Intestine, Stomach, Testes | Refer to specialized team |
| van Lier et al. [405] | 25–30 y | C | Breast, Gynecologic (Cervix, Ovaries, Uterus), Pancreas, Small Intestine, Stomach | |||
| Zbuk and Eng [443] | 18 y | 3 y | C | Breast, Gynecologic (Cervix, Ovaries), Pancreas, Small Intestine, Stomach, Testes |
| ACPGBI = Association of Coloproctology of Great Britain and Ireland; BE = barium enema; C = colonoscopy; FS = flexible sigmoidoscopy; NCCN = National Comprehensive Cancer Network. | |||||
| a STK11 mutation analysis includes sequencing followed by analysis for deletions (e.g., MLPA), if no mutation found by sequencing. | |||||
| bLung cancer risk is increased, but there are no recommendations beyond smoking cessation and heightened awareness of 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.
- van Lier MG, Wagner A, Mathus-Vliegen EM, et al.: High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol 105 (6): 1258-64; author reply 1265, 2010. [PUBMED Abstract]
- Giardiello FM, Trimbath JD: Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 4 (4): 408-15, 2006. [PUBMED Abstract]
- 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]
