Pediatric juvenile polyposis syndromes: An update

Current Gastroenterology Reports

Volumn 11, Issue 3, 2009, Pages 211-219

  Huang, Sherry C ^a   Erdman, Steven H ^a  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE LKB1; SMAD4 PROTEIN; TRANSFORMING GROWTH FACTOR BETA;

ABDOMINAL PAIN; ADULT; AUTOSOMAL RECESSIVE DISORDER; CANCER RISK; CASE REPORT; CELL ADHESION; CELL DIFFERENTIATION; CELL FUNCTION; CELL PROLIFERATION; CHILD; CHROMOSOME 10Q; CHROMOSOME DELETION; CLINICAL FEATURE; COLON ADENOCARCINOMA; COLON POLYPOSIS; COLONOSCOPY; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GASTRECTOMY; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HAMARTOMA; HISTOPATHOLOGY; HUMAN; JUVENILE COLON POLYPOSIS SYNDROME; MALE; PEDIATRICS; PEUTZ JEGHERS SYNDROME; PHENOTYPE; RECTUM HEMORRHAGE; RENDU OSLER WEBER DISEASE; REVIEW; SIGNAL TRANSDUCTION; VOMITING;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; BIOPSY; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; CHILD; CHILD, PRESCHOOL; COLONOSCOPY; DIAGNOSIS, DIFFERENTIAL; DNA, NEOPLASM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAMARTOMA; HUMANS; MALE; MUTATION; PEUTZ-JEGHERS SYNDROME; PROTEIN-SERINE-THREONINE KINASES; PTEN PHOSPHOHYDROLASE; SMAD4 PROTEIN;

EID: 66149094309     PISSN: 15228037     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11894-009-0033-3     Document Type: Review

References (44)

1. Jass JR, Williams CB, Bussey HJR, Morson BC: Juvenile polyposis-a precancerous condition. Histopathology 1988, 13:619-630.
2. Goodman ZD, Yardley JH, Milligan FD: Pathogenesis of colonic polyps in multiple juvenile polyposis. Cancer 1979, 43:1906-1913.
3. Sassatelli R, Bertoni G, Serra L, et al.: Generalized juvenile polyposis with mixed pattern and gastric cancer. Gastroenterology 1993, 104:910-915.
4. Sachatello CR, Griffen WO Jr: Hereditary polypoid diseases of the gastrointestinal tract: A working classification. Am J Surg 1975, 129:198-203.
5. Delnatte C, Sanlaville D, Mougenot JF, et al.: Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 2006, 78:1066-1075.
6. Salviati L, Patricelli M, Guariso G, et al.: Deletion of PTEN and BMPR1A on Chromosome 10q23 is not always associated with juvenile polyposis of infancy. Am J Hum Genet 2006, 78:1066-1074.
7. Gallione CJ, Repetto GM, Lequis F, et al.: A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004, 363:852-859.
8. Heiss KF, Schaffner D, Ricketts RR, Winn K: Malignant risk in juvenile polyposis coli: Increasing documentation in the pediatric age group. J Ped Surg 1993, 28:1188-1193.
9. Calva D, Howe JR: Hamartomatous polyposis syndromes. Surg Clin North Am 2008, 88:779-817.
10. Sweet K, Willis J, Zhou XD, et al.: Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 2005, 294:2498-2500.
11. Waite KA, Eng C: From developmental disordeI to heritable cancer: it's all in the BMP/TGF-beta family. Nat Rev Genet 2003, 4:763-773.
12. Wang J, Sun L, Myeroff C, et al.: Demonstration that mutation of the type II transforming growth factor beta receptor inactivates its tumor suppressor activity in replication error-positive colon carcinoma cells. J Biol Chem 1995, 270:22044-22049.
13. Grady WM, Myeroff LL, Swinler SE, et al.: Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers. Cancer Res 1999, 59:320-324.
14. Howe JR, Sayed MG, Ahmed AF, et al.: The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet 2004, 41:484-491.
15. Howe JR, Haidle JL, Lal G, et al.: ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis. Clin Genet 2007, 71:91-92.
16. Giardiello FM, Trimbath JD: Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 2006, 4:408-415.
17. Utsunomiya J, GochI H, Myanaga T, et al.: Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J 1975, 136:71-82.
18. Jones, KL: Bannayan-Riley-Ruvalcaba syndrome. In Smith's Recognizable Patterns of Human Malformation, edn 6. Edited by Jones KL, Smith DW. Philadelphia: Elsevier Saunders; 2006:610-611.
19. Estrada R, Spjut HJ: Hamartomatous polyps in Peutz-Jeghers Syndrome. A light-, histochemical, and electron-microscopic study. Am J Surg Pathol 1983, 7:747-754.
20. 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, 43:e18.
21. Alessi DR, Sakamoto K, Bayascas JR: LKB1-dependent signaling pathways. Ann Rev Biochem 2006, 75:137-163.
22. Corradetti MN, Inoki K, Bardeesy N, et al.: Regulation of the TSC pathway by LKB1: Evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome. Genes Dev 2004, 18:1533-1538.
23. Amos CI, Keitheri-Cheteri MB, Sabripour M, et al.: Genotype-phenotype correlations in Peutz-Jeghers syndrome. J Med Genet 2004, 41:327-333.
24. Hearle NC, Rudd MF, Lim W, et al.: Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome. J Med Genet 2006, 43:e15.
25. Giardiello FM, Brensinger JD, Tersmette AC, et al.: Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000, 119:1447-1453.
26. Terauchi S, Snowberger N, Demarco D: Double-balloon endoscopy and Peutz-Jeghers syndrome: A new look at an old disease. Proc (Bayl Univ Med Center) 2006, 19:335-337.
27. Brown G, Fraser C, Schofield G, et al.: Video capsule endoscopy in Peutz-Jeghers syndrome: A blinded comparison with barium follow-through for detection of small-bowel polyps. Endoscopy 2006, 38:385-390.
28. Zbuk KM, Eng C: Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer 2007, 7:35-45.
29. Nelen MR, Padberg GW, Peeters EAJ, et al.: Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genet 1996, 13:114-116.
30. Teresi RE, Zbuk KM, Pezzolesi MG, et al.: Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation. Am J Hum Genet 2007, 81:756-767.
31. Lachlan KL, Lucassen AM, Bunyan D, Temple IK: Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: Results of a clinical study of PTEN mutation carriers. J Med Genet 2007, 44:579-585.
32. Longy M, Lacombe D: Cowden disease. Report of a family and review. Ann Genet 1996, 39:35-42.
33. Chan OT, Haghighi P: Hamartomatous polyps of the colon: ganglioneuromatous, stromal, and lipomatous. Arch Pathol Lab Med 2006, 130:1561-1566.
34. Wiedemann HR, Burgio GR, Aldenhoff P, et al.: The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 1983, 140:5-12.
35. Gorlin RJ, Cohen MM Jr, Condon LM: Bannayan Riley Ruvacaba syndrome. Am J Med Genet 1992, 44:307-314.
36. Starink TM, vanAder Veen JP, Arwert F, et al.: The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986, 29:222-233.
37. Eng C: Will the real Cowden Syndrome pleaRe stand up: revised diagnostic criteria. J Med Genet 2000, 37:828-830.
38. Bosserhoff AK, Grussendorf-Conen EI, Rübben A, et al.: Multiple colon carcinomas in a patient with Cowden syndrome. Int J Mol Med 2006, 18:643-647.
39. Carethers JM, Funari FB, Zigman AF, et al.: Absence of PTEN/MMAC1 germline mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Res 1998, 58:2724-2726.
40. Zigman AF, Lavine JE, Jones MC: Localization of the Bannayan-Riley-Ruvalcaba syndrome to chromosome 10q23. Gastroenterology 1997, 113:1433-1437.
41. Waite KAF Eng C: Protean PTEN: form and function. Am J Hum Genet 2002, 70:829-844.
42. Pezzolesi MG, Li y, Zhou XP, et al.: Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. Am J Hum Gen 2006, 79:923-934.
43. Agrawal S, Pilarski R, Eng C: Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN. Hum Mol Genet 2005, 14:2459-2468.
44. Sarguis, MS, Agrawal S, Shen L, et al.: Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Hum Genet 2006, 79:23-30.