síndrome de Peutz-Jeghers

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.Texto completo  Resumo

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.Texto completo  Resumo

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].Texto completo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

2. Kopacova M, Tacheci I, Rejchrt S, et al. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009 Nov 21;15(43):5397-408.Texto completo  Resumo

3. 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. Resumo

4. Jelsig AM, van Overeem Hansen T, Gede LB, et al. Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: a nationwide study. Clin Genet. 2023 Jul;104(1):81-9.Texto completo  Resumo

5. Matsubara Y, Nakamura Y, Nakayama Y, et al. Prevalence and incidence of Peutz-Jeghers syndrome and juvenile polyposis syndrome in Japan: a nationwide epidemiological survey in 2022. J Gastroenterol Hepatol. 2025 Feb;40(2):473-81. Resumo

6. 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. Resumo

7. 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. Resumo

8. 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.Texto completo  Resumo

9. 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.Texto completo  Resumo

10. Momcilovic M, Shackelford DB. Targeting LKB1 in cancer - exposing and exploiting vulnerabilities. Br J Cancer. 2015 Aug 11;113(4):574-84.Texto completo  Resumo

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

12. 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. Resumo

13. 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. Resumo

14. 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. Resumo

15. 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.Texto completo  Resumo

16. 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.Texto completo  Resumo

17. 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.Texto completo  Resumo

18. 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.Texto completo  Resumo

19. 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.Texto completo  Resumo

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

21. 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. Resumo

22. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].Texto completo

23. 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. Resumo

24. 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.Texto completo  Resumo

25. 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.Texto completo  Resumo

26. 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.Texto completo  Resumo

27. 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.Texto completo  Resumo

28. 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.Texto completo  Resumo

29. 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.Texto completo  Resumo

30. 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. Resumo

31. 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. Resumo

32. 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.Texto completo  Resumo

33. 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.Texto completo  Resumo

34. 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. Resumo

35. 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.Texto completo  Resumo

36. 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.Texto completo  Resumo

37. 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.Texto completo  Resumo

38. 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.Texto completo  Resumo

39. MacFarland SP, Becktell K, Schneider KW, et al. Pediatric cancer screening in hereditary gastrointestinal cancer risk syndromes: an update from the AACR Childhood Cancer Predisposition Working Group. Clin Cancer Res. 2024 Oct 15;30(20):4566-71.Texto completo  Resumo

40. Valle L, Monahan KJ. Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management. Lancet Gastroenterol Hepatol. 2024 Jan;9(1):68-82. Resumo

41. 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.Texto completo  Resumo

42. 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. Resumo

43. 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. Resumo

44. 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. Resumo

45. 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. Resumo

46. 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. Resumo

47. Inoue S, Odaka A, Muta Y, et al. Small bowel intussusception secondary to intestinal submucosal cyst in an infant. J Pediatr Surg Case Rep. 2022;80(102248):102248.Texto completo

48. Funayama Y, Shinozaki S, Yano T, et al. Advancements in endoscopic management of small-bowel polyps in Peutz-Jeghers syndrome and familial adenomatous polyposis. Therap Adv Gastroenterol. 2023 Dec 30:17:17562848231218561.Texto completo  Resumo

49. 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. Resumo

50. 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. Resumo

51. 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. Resumo

52. 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.Texto completo  Resumo

53. 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.Texto completo  Resumo

54. 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.Texto completo  Resumo

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

56. 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. Resumo

57. Spigelman AD, Murday V, Phillips RK. Cancer and the Peutz-Jeghers syndrome. Gut. 1989 Nov;30(11):1588-90.Texto completo  Resumo

58. 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. Resumo