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Table 14. Published Recommendations for Diagnosis and Surveillance of Peutz-Jeghers Syndrome (PJS)

Organization  STK11 Gene Testing Recommendeda Age Colon Screening Initiated Frequency Method Extracolonic Screening Recommendations Comment 
Johns Hopkins (2006) [531]Yes, at age 8 y18 y2–3 yCBreast, gynecologic (cervix, ovaries, uterus), pancreas, small intestine, stomach, testes
Johns Hopkins (2007) [532]Yes, age not specifiedLate teens or at onset of symptoms3 yCBreast, gynecologic (cervix, ovaries, uterus), pancreas, small intestine, stomach, testesGenetic testing in the late teens or at onset of symptoms.
ACPGBI (2007)18 y3 yC or FS + BENo mention of extracolonic screeningNo recommendation for genetic testing; need to consider STK11/LKB1 testing.
Cleveland Clinic (2007) [533]18 y3 yCBreast, gynecologic (cervix, ovaries), pancreas, small intestine, stomach, testes
Erasmus University Medical Center (2010) [478]25–30 yCBreast, gynecologic (cervix, ovaries, uterus), pancreas, small intestine, stomach
NCCN (2014) [92]No specific recommendationLate teens2–3 yCBreast, gynecologic (cervix, ovaries, uterus), lungb, pancreas, small intestine, stomach, testesRefer to specialized team.

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.
(Refer to the Other High-Penetrance Syndromes Associated With Breast and/or Gynecologic Cancer section in the PDQ summary on the Genetics of Breast and Gynecologic Cancers for more information about PJS and the risk of breast and ovarian cancer.)

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. 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]

  3. Giardiello FM, Trimbath JD: Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 4 (4): 408-15, 2006.  [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]