Peutz-Jeghers syndrome

Boland CR, Idos GE, Durno C, et al. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2022 Jun;162(7):2063-85.Full text  Abstract

Monahan KJ, Bradshaw N, Dolwani S, et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut. 2020 Mar;69(3):411-44.Full text  Abstract

van Leerdam ME, Roos VH, van Hooft JE, et al. Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) guideline. Endoscopy. 2019 Sep;51(9):877-95.Full text  Abstract

Wagner A, Aretz S, Auranen A, et al. The management of Peutz-Jeghers syndrome: European Hereditary Tumour Group (EHTG) guideline. J Clin Med. 2021 Jan 27;10(3):473.Full text  Abstract

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal [internet publication].Full text

1. 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. 2010 Jun;105(6):1258-64. Abstract

2. Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998 Jan;18(1):38-43. Abstract

3. Hemminki A, Makie D, Tomlinson I, et al. A serine threonine kinase gene defect in Peutz Jeghers syndrome. Nature. 1998 Jan 8;391(6663):184-7. Abstract

4. Syngal S, Brand RE, Church JM, et al; American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb;110(2):223-62.Full text  Abstract

5. Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010 Jul;59(7):975-86. Abstract

6. McGarrity TJ, Amos C, Baker MJ. Peutz-Jeghers syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews (Internet). Seattle, WA: University of Washington, Seattle; Sep 2, 2021.Full text  Abstract

7. Kullmann L, Krahn MP. Controlling the master-upstream regulation of the tumor suppressor LKB1. Oncogene. 2018 Jun;37(23):3045-57. Abstract

8. McGarrity TJ, Peiffer LP, Amos CI, et al. Overexpression of cyclooxygenase 2 in hamartomatous polyps of Peutz-Jeghers syndrome. Am J Gastroenterol. 2003 Mar;98(3):671-8. Abstract

9. Wei C, Amos CI, Rashid A, et al. Correlation of staining for LKB1 and COX-2 in hamartomatous polyps and carcinomas from patients with Peutz-Jeghers syndrome. J Histochem Cytochem. 2003 Dec;51(12):1665-72. Abstract

10. Mehenni H, Resta N, Guanti G, et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. Dig Dis Sci. 2007 Aug;52(8):1924-33. Abstract

11. Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006 May 15;12(10):3209-15.Full text  Abstract

12. Amos CI, Keitheri-Cheteri MB, Sabripour M, et al. Genotype-phenotype correlations in Peutz-Jeghers syndrome. J Med Genet. 2004 May;41(5):327-33.Full text  Abstract

13. Latchford A, Cohen S, Auth M, et al. Management of Peutz-Jeghers syndrome in children and adolescents: a position paper from the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):442-52.Full text  Abstract

14. Boland CR, Idos GE, Durno C, et al. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2022 Jun;162(7):2063-85.Full text  Abstract

15. Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006 Apr;4(4):408-15. Abstract

16. Giardiello FM, Bresinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000 Dec;119(6):1447-53. Abstract

17. Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat. 2005 Dec;26(6):513-9. Abstract

18. Volikos E, Robinson J, Aittomaki K, et al. LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. J Med Genet. 2006 May;43(5):e18.Full text  Abstract

19. Monahan KJ, Bradshaw N, Dolwani S, et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut. 2020 Mar;69(3):411-44.Full text  Abstract

20. van Leerdam ME, Roos VH, van Hooft JE, et al. Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) guideline. Endoscopy. 2019 Sep;51(9):877-95.Full text  Abstract

21. ASGE Standards of Practice Committee, Coelho-Prabhu N, Forbes N, et al. Adverse events associated with EGD and EGD-related techniques. Gastrointest Endosc. 2022 Sep;96(3):389-401.e1.Full text  Abstract

22. Wagner A, Aretz S, Auranen A, et al. The management of Peutz-Jeghers syndrome: European Hereditary Tumour Group (EHTG) guideline. J Clin Med. 2021 Jan 27;10(3):473.Full text  Abstract

23. Sweet K, Willis J, Zhou X-P, et al. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA. 2005 Nov 16;294(19):2465-73.Full text  Abstract

24. Friedl W, Uhlhaas S, Schulmann K, et al. Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Hum Genet. 2002 Jul;111(1):108-11. Abstract

25. O'Malley M, LaGuardia L, Kalady MF, et al. The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. Dis Colon Rectum. 2012 Aug;55(8):886-92. Abstract

26. Haidle JL, MacFarland SP, Howe JR. Juvenile polyposis syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews (Internet). Seattle, WA: University of Washington, Seattle; Feb 3, 2022.Full text  Abstract

27. Yehia L, Eng C. PTEN hamartoma tumor syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews (Internet). Seattle, WA: University of Washington, Seattle; Feb 11, 2021.Full text  Abstract

28. Lieberman S, Walsh T, Schechter M, et al. Features of patients with hereditary mixed polyposis syndrome caused by duplication of GREM1 and implications for screening and surveillance. Gastroenterology. 2017 Jun;152(8):1876-80.e1. Abstract

29. Jaeger E, Leedham S, Lewis A, et al. Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet. 2012 May 6;44(6):699-703.Full text  Abstract

30. Yen T, Stanich PP, AxellL, et al. APC-associated polyposis conditions. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews (Internet). Seattle, WA: University of Washington, Seattle; May 12, 2022.Full text  Abstract

31. Gregory I, Valle L. Lynch syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews (Internet). Seattle, WA: University of Washington, Seattle; Feb 4, 2021.Full text  Abstract

32. Stratakis CA, Raygada M. Carney complex. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews (Internet). Seattle, WA: University of Washington, Seattle; Aug 16, 2018.Full text  Abstract

33. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal [internet publication].Full text

34. Canto MI, Harinck F, Hruban RH, et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47.Full text  Abstract

35. Oncel M, Remzi FH, Church JM, et al. Benefits of "clean sweep" in Peutz-Jegher's patients. Colorectal Dis. 2004 Sep;6(5):332-5. Abstract

36. Edwards DP, Khosraviani K, Stafferton R, et al. Long-term results of polyp clearance by intraoperative enteroscopy in the Peutz-Jeghers syndrome. Dis Colon Rectum. 2003 Jan;46(1):48-50. Abstract

37. Zanoni EC, Averbach M, Borges JL, et al. Laparoscopic treatment of intestinal intussusception in the Peutz-Jeghers syndrome: case report and review of the literature. Surg Laparosc Endosc Percutan Tech. 2003 Aug;13(4):280-2. Abstract

38. Latchford AR, Neale K, Phillips RK, et al. Peutz-Jeghers syndrome: intriguing suggestion of gastrointestinal cancer prevention from surveillance. Dis Colon Rectum. 2011 Dec;54(12):1547-51. Abstract

39. Gorospe EC, Alexander JA, Bruining DH, et al. Performance of double-balloon enteroscopy for the management of small bowel polyps in hamartomatous polyposis syndromes. J Gastroenterol Hepatol. 2013 Feb;28(2):268-73. Abstract

40. Kato S, Takeyama J, Tanita Y, et al. Ruby laser therapy for labial lentigines in Peutz-Jeghers syndrome. Eur J Pediatr. 1998 Aug;157(8):622-4. Abstract

41. Remington BK, Remington TK. Treatment of facial lentigines in Peutz-Jeghers syndrome with intense pulsed light source. Dermatol Surg. 2002 Nov;28(11):1079-81. Abstract

42. Udd L, Katajisto P, Rossi DJ, et al. Suppression of Peutz-Jeghers polyposis by inhibition of cyclooxygenase-2. Gastroenterology. 2004 Oct;127(4):1030-7. Abstract

43. Wei C, Amos CI, Zhang N, et al. Suppression of Peutz-Jeghers polyposis by targeting mammalian target of rapamycin signaling. Clin Cancer Res. 2008 Feb 15;14(4):1167-71.Full text  Abstract

44. Wei C, Amos CI, Zhang N, et al. Chemopreventive efficacy of rapamycin on Peutz-Jeghers syndrome in a mouse model. Cancer Lett. 2009 May 18;277(2):149-54.Full text  Abstract

45. Robinson J, Lai C, Martin A, et al. Oral rapamycin reduces tumour burden and vascularization in Lkb1(+/-) mice. J Pathol. 2009 Sep;219(1):35-40.Full text  Abstract

46. Kuwada SK, Burt R. A rationale for mTOR inhibitors as chemoprevention agents in Peutz-Jeghers syndrome. Fam Cancer. 2011 Sep;10(3):469-72. Abstract

47. Westerman AM, Entius MM, de Baar E, et al. Peutz-Jeghers syndrome: 78 year follow up of the original family. Lancet. 1999 Apr 10;353(9160):1211-5. Abstract

48. Spigelman AD, Murday V, Phillips RK. Cancer and the Peutz-Jeghers syndrome. Gut. 1989 Nov;30(11):1588-90.Full text  Abstract

49. Hinds R, Philp C, Hyer W, et al. Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr. 2004 Aug;39(2):219-20.Full text  Abstract

50. Mata A, Llach J, Castells A, et al. A prospective trial comparing wireless capsule endoscopy and barium contrast series for small-bowel surveillance in hereditary GI polyposis syndromes. Gastrointest Endosc. 2005 May;61(6):721-5. Abstract