nach oben

Familial Cancer

Erschienen in:

01.09.2011

Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects

verfasst von: A. R. Latchford, R. K. S. Phillips

Erschienen in: Familial Cancer | Ausgabe 3/2011

Einloggen, um Zugang zu erhalten

Abstract

The two main problems in the management of the gastrointestinal tract in patients with Peutz-Jeghers syndrome (PJS) are the long term cancer risk and managing polyp related complications, such as intussusception and bleeding. In this article we will focus mainly on the clinical management of these problems. We will highlight some of the controversies regarding gastrointestinal PJS polyps, cancer development and cancer risk. We will review the available literature, particularly focusing on clinical data, to provide insights into these controversies. We describe guidelines for the surveillance and management of gastrointestinal polyps in PJS and review the data behind current recommendations.

Connor J (1895) Aesculapian society of London. Lancet 2:1169

Bruwer A, Bargen JA, Kierland RR (1954) Surface pigmentation and generalized intestinal polyposis; (Peutz-Jeghers syndrome). Proc Staff Meet Mayo Clin 29:168–171PubMed

Peutz J (1921) Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied ny peculiar pigmentations of skin and mucous membrane. Nederl maandschr v geneesk 10:134–146

Jeghers HMV, Katz K (1949) Generalised intestinal polyposis and melanin spots of the oral mucosa, lips and digits. N Engl J Med 241:993–1005PubMedCrossRef

Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A (1975) Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J 136:71–82PubMed

Giardiello FM, Trimbath JD (2006) Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 4:408–415PubMedCrossRef

Boudeau J, Sapkota G, Alessi DR (2003) LKB1, a protein kinase regulating cell proliferation and polarity. FEBS Lett 546:159–165PubMedCrossRef

Shepherd NA, Bussey HJ, Jass JR (1987) Epithelial misplacement in Peutz-Jeghers polyps. A diagnostic pitfall. Am J Surg Pathol 11:743–749PubMedCrossRef

McGarrity TJ, Kulin HE, Zaino RJ (2000) Peutz-Jeghers syndrome. Am J Gastroenterol 95:596–604PubMedCrossRef

10.

Vogel T, Schumacher V, Saleh A, Trojan J, Moslein G (2000) Extraintestinal polyps in Peutz-Jeghers syndrome: presentation of four cases and review of the literature. Deutsche Peutz-Jeghers-Studiengruppe. Int J Colorectal Dis 15:118–123PubMedCrossRef

11.

Finan MC, Ray MK (1989) Gastrointestinal polyposis syndromes. Dermatol Clin 7:419–434PubMed

12.

Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, Krush AJ, Yardley JH, Luk GD (1987) Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 316:1511–1514PubMedCrossRef

13.

Spigelman AD, Murday V, Phillips RK (1989) Cancer and the Peutz-Jeghers syndrome. Gut 30:1588–1590PubMedCrossRef

14.

Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ, Ahlquist DA, Podratz KC, Pittelkow M, Hartmann LC (1998) Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128:896–899PubMed

15.

Linos DA, Dozois RR, Dahlin DC, Bartholomew LG (1981) Does Peutz-Jeghers syndrome predispose to gastrointestinal malignancy? A later look. Arch Surg 116:1182–1184PubMed

16.

Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moslein G, Royer-Pokora B (2005) STK11 genotyping and cancer risk in Peutz-Jeghers syndrome. J Med Genet 42:428–435PubMedCrossRef

17.

Choi HS, Park YJ, Youk EG, Yoon KA, Ku JL, Kim NK, Kim SM, Kim YJ, Moon DJ, Min JS, Park CJ, Bae OS, Yang DH, Jun SH, Chung ES, Jung PM, Whang Y, Park JG (2000) Clinical characteristics of Peutz-Jeghers syndrome in Korean polyposis patients. Int J Colorectal Dis 15:35–38PubMedCrossRef

18.

Hizawa K, Iida M, Matsumoto T, Kohrogi N, Kinoshita H, Yao T, Fujishima M (1993) Cancer in Peutz-Jeghers syndrome. Cancer 72:2777–2781PubMedCrossRef

19.

Laughlin EH (1991) Benign and malignant neoplasms in a family with Peutz-Jeghers syndrome: study of three generations. South Med J 84:1205–1209PubMedCrossRef

20.

Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, Cruz-Correa M, Offerhaus JA (2000) Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 119:1447–1453PubMedCrossRef

21.

Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, de Rooij FW, Wilson JH, Hansmann A, Moslein G, Royer-Pokora B, Vogel T, Phillips RK, Spigelman AD, Houlston RS (2006) Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 12:3209–3215PubMedCrossRef

22.

Lim W, Olschwang S, Keller JJ, Westerman AM, Menko FH, Boardman LA, Scott RJ, Trimbath J, Giardiello FM, Gruber SB, Gille JJ, Offerhaus GJ, de Rooij FW, Wilson JH, Spigelman AD, Phillips RK, Houlston RS (2004) Relative frequency and morphology of cancers in STK11 mutation carriers. Gastroenterology 126:1788–1794PubMedCrossRef

23.

Bosman FT (1999) Molecular pathology of colorectal cancer. Cytogenet Cell Genet 86:112–117PubMedCrossRef

24.

Bouraoui S, Azouz H, Kechrid H, Lemaiem F, Mzabi-Regaya S (2008) Peutz-Jeghers’ syndrome with malignant development in a hamartomatous polyp: report of one case and review of the literature. Gastroenterol Clin Biol 32:250–254PubMedCrossRef

25.

Hizawa K, Iida M, Matsumoto T, Kohrogi N, Yao T, Fujishima M (1993) Neoplastic transformation arising in Peutz-Jeghers polyposis. Dis Colon Rectum 36:953–957PubMedCrossRef

26.

Latchford A, Neale K, Phillips RKSP, Clark S (2009) Outcomes from GI tract surveillance in Peutz-Jeghers syndrome. Abstract InSiGHT

27.

Jansen M, de Leng WW, Baas AF, Myoshi H, Mathus-Vliegen L, Taketo MM, Clevers H, Giardiello FM, Offerhaus GJ (2006) Mucosal prolapse in the pathogenesis of Peutz-Jeghers polyposis. Gut 55:1–5PubMedCrossRef

28.

Entius MM, Keller JJ, Westerman AM, van Rees BP, van Velthuysen ML, de Goeij AF, Wilson JH, Giardiello FM, Offerhaus GJ (2001) Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome. J Clin Pathol 54:126–131PubMedCrossRef

29.

Miyaki M, Iijima T, Hosono K, Ishii R, Yasuno M, Mori T, Toi M, Hishima T, Shitara N, Tamura K, Utsunomiya J, Kobayashi N, Kuroki T, Iwama T (2000) Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome. Cancer Res 60:6311–6313PubMed

30.

Beggs AD, Latchford AR, Vasen HFA, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Hes FJ, Järvinen H, Mecklin JP, Myrhøi T, Nagengast FM, Parc Y, Phillips RKS, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJW, Wijnen J, Clark SK, Hodgson SV (2010) Peutz-Jeghers Syndrome: a systematic review and recommendations for management. Gut 59:975–986PubMedCrossRef

31.

Dunlop MG (2002) Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut 51(Suppl 5):V21–V27PubMedCrossRef

32.

Hinds R, Philp C, Hyer W, Fell JM (2004) Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr 39:219–220PubMedCrossRef

33.

Brown G, Fraser C, Schofield G, Taylor S, Bartram C, Phillips R, Saunders B (2006) Video capsule endoscopy in Peutz-Jeghers syndrome: a blinded comparison with barium follow-through for detection of small-bowel polyps. Endoscopy 38:385–390PubMedCrossRef

34.

Mata A, Llach J, Castells A, Rovira JM, Pellise M, Gines A, Fernandez-Esparrach G, Andreu M, Bordas JM, Pique JM (2005) A prospective trial comparing wireless capsule endoscopy and barium contrast series for small-bowel surveillance in hereditary GI polyposis syndromes. Gastrointest Endosc 61:721–725PubMedCrossRef

35.

Postgate A, Hyer W, Phillips R, Gupta A, Burling D, Bartram C, Marshall M, Taylor S, Brown G, Schofield G, Bassett P, Spray C, Fitzpatrick A, Latchford A, Fraser C (2009) Feasibility of video capsule endoscopy in the management of children with Peutz-Jeghers syndrome: a blinded comparison with barium enterography for the detection of small bowel polyps. J Pediatr Gastroenterol Nutr 49:417–423PubMedCrossRef

36.

Kurugoglu S, Aksoy H, Kantarci F, Cetinkaya S, Mihmanli I, Korman U (2003) Radiological work-up in Peutz-Jeghers syndrome. Pediatr Radiol 33:766–771PubMed

37.

Caspari R, von Falkenhausen M, Krautmacher C, Schild H, Heller J, Sauerbruch T (2004) Comparison of capsule endoscopy and magnetic resonance imaging for the detection of polyps of the small intestine in patients with familial adenomatous polyposis or with Peutz-Jeghers’ syndrome. Endoscopy 36:1054–1059PubMedCrossRef

38.

Gupta A, Postgate AJ, Burling D, Ilangovan R, Marshall M, Phillips RK, Clark SK, Fraser CH (2010) A prospective study of MR enterography versus capsule endoscopy for the surveillance of adult patients with Peutz-Jeghers syndrome. AJR Am J Roentgenol 195:108–116PubMedCrossRef

39.

Edwards DP, Khosraviani K, Stafferton R, Phillips RK (2003) Long-term results of polyp clearance by intraoperative enteroscopy in the Peutz-Jeghers syndrome. Dis Colon Rectum 46:48–50PubMedCrossRef

40.

Oncel M, Remzi FH, Church JM, Connor JT, Fazio VW (2004) Benefits of ‘clean sweep’ in Peutz-Jeghers patients. Colorectal Dis 6:332–335PubMedCrossRef

41.

Gao H, van Lier MG, Poley JW, Kuipers EJ, van Leerdam ME, Mensink PB (2010) Endoscopic therapy of small-bowel polyps by double-balloon enteroscopy in patients with Peutz-Jeghers syndrome. Gastrointest Endosc 71:768–773PubMedCrossRef

42.

Kopacova M, Bures J, Ferko A, Tacheci I, Rejchrt S (2010) Comparison of intraoperative enteroscopy and double-balloon enteroscopy for the diagnosis and treatment of Peutz-Jeghers syndrome. Surg Endosc 24:1904–1910PubMedCrossRef

43.

Despott E, Phillips RKS, Clark S, Postgate A, Fitzpatrick A, Tripoli E, Konieczko K, Fraser C (2009) Small bowel polypectomy by double balloon enteroscopy—advancing endoscopic therapy for patients with Peutz-Jeghers syndrome. Abstract InSiGHT 2009

44.

Corradetti MN, Inoki K, Bardeesy N, DePinho RA, Guan KL (2004) Regulation of the TSC pathway by LKB1: evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome. Genes Dev 18:1533–1538PubMedCrossRef

45.

Wei C, Amos CI, Zhang N, Wang X, Rashid A, Walker CL, Behringer RR, Frazier ML (2008) Suppression of Peutz-Jeghers polyposis by targeting mammalian target of rapamycin signaling. Clin Cancer Res 14:1167–1171PubMedCrossRef

46.

McGarrity TJ, Peiffer LP, Amos CI, Frazier ML, Ward MG, Howett MK (2003) Overexpression of cyclooxygenase 2 in hamartomatous polyps of Peutz-Jeghers syndrome. Am J Gastroenterol 98:671–678PubMedCrossRef

47.

Udd L, Katajisto P, Rossi DJ, Lepisto A, Lahesmaa AM, Ylikorkala A, Jarvinen HJ, Ristimaki AP, Makela TP (2004) Suppression of Peutz-Jeghers polyposis by inhibition of cyclooxygenase-2. Gastroenterology 127:1030–1037PubMedCrossRef

48.

Huang X, Wullschleger S, Shpiro N, McGuire VA, Sakamoto K, Woods YL, McBurnie W, Fleming S, Alessi DR (2008) Important role of the LKB1-AMPK pathway in suppressing tumorigenesis in PTEN-deficient mice. Biochem J 412:211–221PubMedCrossRef

Titel: Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects
verfasst von: A. R. Latchford
R. K. S. Phillips
Publikationsdatum: 01.09.2011
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 3/2011
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-011-9442-1

Neu im Fachgebiet Onkologie

23.04.2024 | Medikamente in Schwangerschaft und Stillzeit | Nachrichten

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects

Abstract

Neu im Fachgebiet Onkologie

ICI-Therapie in der Schwangerschaft wird gut toleriert

Krebspatienten impfen: Was? Wen? Und wann nicht?

Müde im Alter? Auch an die Nebenniere denken

Stufenschema weist Prostatakarzinom zuverlässig nach

Update Onkologie

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2011

The LKB1 complex-AMPK pathway: the tree that hides the forest

A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Tunisian family with FAP

Familial colorectal cancer: eleven years of data from a registry program in Switzerland

Dendritic cell and macrophage infiltration in microsatellite-unstable and microsatellite-stable colorectal cancer

LKB1 signaling in advancing cell differentiation

Cancer worry among Norwegian male BRCA1/2 mutation carriers

Neu im Fachgebiet Onkologie

ICI-Therapie in der Schwangerschaft wird gut toleriert

Krebspatienten impfen: Was? Wen? Und wann nicht?

Müde im Alter? Auch an die Nebenniere denken

Stufenschema weist Prostatakarzinom zuverlässig nach

Update Onkologie