Findings from the Peutz-Jeghers syndrome registry of Uruguay

PLoS ONE

Volumn 8, Issue 11, 2013, Pages

  Tchekmedyian, Asadur ^a   Amos, Christopher I ^b   Bale, Sherri J ^c   Zhu, Dakai ^b   Arold, Stefan ^d,g   Berrueta, Joaquin ^e   Nabon, Natalie ^e   McGarrity, Thomas ^f  

^a Hospital Pasteur Montevideo   (Uruguay)

^b DARTMOUTH MEDICAL SCHOOL   (United States)

^c GENEDX   (United States)

^d UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^e DEPARTAMENTO DE BIOQUÍMICA   (Uruguay)

^f PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^g KING ABDULLAH UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGE; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BREAST CANCER; CALCIFICATION; CANCER MORTALITY; CAUSE OF DEATH; CHILD; CLINICAL ARTICLE; CLINICAL STUDY; COLON POLYP; COLONOSCOPY; CONTROLLED STUDY; EXON; FEMALE; GASTROINTESTINAL HAMARTOMA; GASTROINTESTINAL POLYPOSIS; GENE; GENE DELETION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ASSOCIATION; GENETICS; HAMARTOMA; HISTOPATHOLOGY; HUMAN; INCIDENCE; INTESTINE CANCER; INTESTINE INTUSSUSCEPTION; INTESTINE OBSTRUCTION; INTESTINE SURGERY; IRON DEFICIENCY ANEMIA; KIDNEY CANCER; LEG DISEASE; LEG FIBROSARCOMA; LIVE BIRTH; LUNG CANCER; MALE; MALIGNANT NEOPLASTIC DISEASE; MISSENSE MUTATION; MORTALITY; PEUTZ JEGHERS SYNDROME; PIGMENTATION; POSTOPERATIVE COMPLICATION; PRIVATE HOSPITAL; PUBLIC HOSPITAL; RECTUM CANCER; SCHOOL CHILD; SEIZURE; SEX RATIO; SK11 GENE; TESTIS DISEASE; THYROID CANCER;

ADULT; FEMALE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PEUTZ-JEGHERS SYNDROME; URUGUAY; YOUNG ADULT;

EID: 84896694378     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0079639     Document Type: Article

References (38)

1. Buck JL, Harned RK, Lichtenstein JE, Sobin LH (1992) Peutz-Jeghers syndrome. Radiographics 12: 365-378.
2. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, et al. (2000) Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 119: 1447-1453. (Pubitemid 32198669)
3. Boardman LA, Thibodeau SN, Schaid D, Lindor NM, McDonnell SK, et al. (1998) Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128: 896-899. (Pubitemid 28289483)
4. Bjorkqvist AM, Knuutila S, Salovaara R, Bodmer W, Shibata D, et al. (1997) Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 15: 87-90. (Pubitemid 27014956)
5. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, et al. (1998) A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391: 184-187. (Pubitemid 28092478)
6. Olschwang S, Markie D, Seal S, Neale K, Phillips R, et al. (1998) Peutz-Jeghers disease: Most, but not all, families are compatible with linkage to 19p13.3. J Med Genet 35: 42-44. (Pubitemid 28156490)
7. Liard W, Valls A, Cassinelli J (1968) [Peutz-Jeghers Syndrome] article in Spanish. Rev Cir Uruguay 38: 238-243.
8. Amos CI, Keitheri-Cheteri MB, Sabripour M, Wei C, McGarrity TJ, et al. (2004) Genotype-phenotype correlations in Peutz-Jeghers syndrome. J Med Genet 41(5): 327-333. (Pubitemid 38608514)
9. Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, et al. (1987) Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 316: 1511-1514. (Pubitemid 17076235)
10. Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, et al. (2010) Peutz-Jeghers syndrome: A systematic review and recommendations for management. Gut 59: 975-986.
11. Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A (1975) Peutz-Jeghers syndrome: Its natural course and management. Johns Hopkins Med J 136: 71-82.
12. Jallon P (1997) ILAE Workshop Report. Epilepsy in developing countries. Epilepsia 38: 1143-1157.
13. Lindor N, Greene and the Mayo Familial Cancer Program (1998) The concise handbook of family cancer syndromes. J Natl Cancer Ins 90: 1039-1071. (Pubitemid 28350271)
14. Amos CI, Frazier ML, McGarrity TJ (1993-2001) Peutz-Jeghers Syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K, eds. GeneReviews (Internet). Seattle (WA): University of Washington, Seattle; 1993-2001 Feb 23 (updated 2011 Feb 22).
15. Choi HS, Park YJ, Youk EG, Yoon KA, Ku JL, et al. (2000) Clinical characteristics of Peutz-Jeghers syndrome in Korean polyposis patients. Int J Colorectal Dis 15: 35-38.
16. Higham P, Alawi F, Stoopler ET (2010) Medical management update: Peutz-Jeghers syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 109: 5-11.
17. Bartholomew L, Moore C, Dahlin D, Waugh J (1962) Intestinal polyposis associated with mucocutaneus pigmentation. Surg Gynecol Obstet 115: 1-11.
18. Bartholomew LG, Dahlin DC, Waugh JM (1957) Intestinal polyposis associated with mucocutaneous melanin pigmentation/Peutz-Jeghers syndrome. Gastroenterology 32: 434-451.
19. Van Lier MG, Westerman AM, Wagner A, Looman CW, Wilson JH, et al. (2011) High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut 60 (2): 141-147.
20. Lim W, Olschwang S, Keller JJ, Westerman AM, Menko FH, et al. (2004) Relative frequency and morphology of cancers in STK11 mutation carriers. Gastroenterology 126: 1788-1794. (Pubitemid 38736344)
21. You YN, Wolff BG, Boardman LA, Riegert-Johnson DL, Qin R (2010) Peutz-Jeghers syndrome: A study of long-term surgical morbidity and causes of mortality. Fam Cancer 9: 609-616.
22. Proppe KH and Scully RE (1980) Large-cell calcifying sertoli cell tumor of the testis. Am J Clin Pathol 74: 607-619. (Pubitemid 11241026)
23. Van Lier MG, Mathus-Vliegen EM, Wagner A, van Leerdam ME, Kuipers EJ (2010) High cumulative risk of intussusceptions in patients with Peutz-Jeghers syndrome: Time to update surveillance guidelines. Am J Gastroenterol 106: 940-945.
24. Tan VK, Koh PK, Loi CT, Eu KW, Tang CL (2010) Peutz-Jeghers syndrome: Data from the Singapore Polyposis Registry and a shifting paradigm in management. Ann Acad Med Singapore 39: 17-21.
25. Fan D, Ma C, Zhang H (2009) The molecular mechanisms that underlie the tumor suppressor function of LKB1. Acta Biochim Biophys Sin 41: 97-107.
26. Ylikorkala A, Rossi DJ, Korsisaari N, Luukko K, Alitalo K, et al. (2001) Vascular abnormalities and deregulation of VEGF in LKB1-deficient mice. Science 293 (5533): 1323-1326. (Pubitemid 32777423)
27. Martin SG, St Johnston D (2003) A role for Drosophila LKB1 in anterior-posterior axis formation and epithelial polarity. Nature 421 (6921): 379-384. (Pubitemid 36157936)
28. Karuman P, Gozani O, Odze RD, Zhou XC, Zhu H, et al. (2001) The Peutz-Jegher gene product LKB1 is a mediator of p53-dependent cell death. Mol Cell 7(6): 1307-1319. (Pubitemid 32607363)
29. Jansen M, de Leng WW, Baas AF, Myoshi H, Mathus-Vliegen L, et al. (2006) Mucosal prolapse in the pathogenesis of Peutz-Jeghers polyposis. Gut 55(1): 1-5. (Pubitemid 41820624)
30. Liard W, Pomi J (1976) [Small bowel polyposis: Peutz-Jeghers syndrome] Article in Spanish. Cir Urug 46: 384-387.
31. Salloch H, Reinacher-Schick A, Schulmann K, Pox C, Willert J, et al. (2010) Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. Int J Colorectal Dis 25: 97-107.
32. Rowan A, Bataille V, MacKie R, Healy E, Bicknell D, et al. (1999) Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas. J Invest Dermatol 112(4): 509-11. (Pubitemid 29171943)
33. Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, et al. (2005) High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 26: 513-519. (Pubitemid 41780473)
34. Gruber S, Entius M, Petersen G, Laken S, Longo P, et al. (1998) Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res 58: 5267-5270. (Pubitemid 28551096)
35. Papp J, Kovacs ME, Solyom S, Kasler M, Borresen-Dale AL, et al. (2010) High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers syndrome patients. BMC Med Genet 11: 169.
36. Jiang CY, Esufali S, Berk T, Gallinger S, Cohen Z, et al. (1999) STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients. Clin Genet 56: 136-141. (Pubitemid 29433595)
37. Resta N, Giorda R, Bagnulo R, Beri S, Della Mina E, et al. (2010) Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. Hum Genet 128: 373-382.
38. Vasovcák P, Puchmajerová A, Roubalík J, Krepelová A (2009) Mutations in STK11 gene in Czech Peutz-Jeghers patients. BMC Med Genet 10: 69-76.