Gastric involvement in juvenile polyposis associated with germline SMAD4 mutations: An entity characterized by a mixed hypertrophic and polypoid gastropathy

Gastroenterologie Clinique et Biologique

Volumn 32, Issue 5 SUPPL. PART 1, 2008, Pages 445-450

  Pintiliciuc, O G ^a   Heresbach, D ^a   de Lajarte Thirouard, A S ^a   Dugast, C ^b   Reignier, A ^c   Cottereau, J ^d   Bretagne, J F ^a  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^b RENNES UNIVERSITY HOSPITAL   (France)

^c Gastroentérologue libéral ^*  (France)

^d Gastroentérologue libéral   (France)

Author keywords

[No Author keywords available]

Indexed keywords

SMAD4 PROTEIN;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; COLONOSCOPY; ENDOSCOPY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; JUVENILE POLYP; PHYSICAL EXAMINATION; POLYPOSIS; TOTAL STOMACH RESECTION;

ADULT; FEMALE; HUMANS; HYPERTROPHY; MIDDLE AGED; MUTATION; POLYPS; SMAD4 PROTEIN; STOMACH; STOMACH DISEASES;

EID: 50649100886     PISSN: 03998320     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gcb.2007.11.008     Document Type: Article

References (29)

1. Burt R.W., Bishop D.T., Lynch H.T., Rozen P., and Winawer S.J. Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO collaborating centre for the prevention of colorectal cancer. Bull World Health Organ 68 (1990) 655-665
2. Desai D.C., Neale K.F., Talbot I.C., Hodgson S.V., and Phillips R.K. Juvenile polyposis. Br J Surg 82 (1995) 14-17
3. Wirtzfeld D.A., Petrelli N.J., and Rodriguez-Bigas M.A. Hamartomatous polyposis syndromes: Molecular genetics, neoplastic risk, and surveillance recommendations. Ann Surg Oncol 8 (2001) 319-327
4. Jass J.R. Juvenile Polyposis. In: Phillips R.T.J., and Spiegelman A. (Eds). Familial Adenomatous Polyposis and Other Polyposis Syndromes. 1st ed. (1994), Edward Arnold, London 203-214
5. Hofting I., Pott G., Schrameyer B., and Stolte M. Familial juvenile polyposis with predominant stomach involvement. Z Gastroenterol 31 (1993) 480-483
6. Coburn M.C., Pricolo V.E., DeLuca F.G., and Bland K.I. Malignant potential in intestinal juvenile polyposis syndromes. Ann Surg Oncol 2 (1995) 386-391
7. Sachatello C.R., Hahn I.S., and Carrington C.B. Juvenile gastrointestinal polyposis in a female infant: Report of a case and review of the literature of a recently recognized syndrome. Surgery 75 (1974) 107-114
8. Watanabe A., Nagashima H., Motoi M., and Ogawa K. Familial juvenile polyposis of the stomach. Gastroenterology 77 (1979) 148-151
9. Gallione C.J., Repetto G.M., Legius E., Rustgi A.K., Schelley S.L., Tejpar S., et al. A combined syndrome of juvenile polyposis and hereditary hemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 363 (2004) 852-859
10. Howe J.R., Roth S., Ringold J.C., Summers R.W., Jarvinen H.J., Sistonen P., et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 280 (1998) 1086-1088
11. Howe J.R., Bair J.L., Sayed M.G., Anderson M.E., Mitros F.A., Petersen G.M., et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 28 (2001) 184-187
12. Howe J.R., Sayed M.G., Ahmed A.F., Ringold J., Larsen-Haidle J., Merg A., et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet 41 (2004) 484-491
13. Handra-Luca A., Condroyer C., de Moncuit C., Tepper M., Flejou J.F., Thomas G., et al. Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. Am J Med Genet A 138 (2005) 113-117
14. Shikata K., Kukita Y., Matsumoto T., Esaki M., Yao T., Mochizuki Y., et al. Gastric juvenile polyposis associated with germline SMAD4 mutation. Am J Med Genet A 134 (2005) 326-329
15. Hizawa K., Iida M., Matsumoto T., Kohrogi N., Kinoshita H., Yao T., et al. Cancer in Peutz-Jeghers syndrome. Cancer 72 (1993) 2777-2781
16. Covarrubias D.J., and Huprich J.E. Best cases from the AFIP. Juvenile polyposis of the stomach. Armed Forces Institute of Pathology. Radiographics 22 (2002) 415-420
17. Stemper T.J., Kent T.H., and Summers R.W. Juvenile polyposis and gastrointestinal carcinoma. A study of a kindred. Ann Intern Med 83 (1975) 639-646
18. Scoazec J.Y. Les polypes gastriques : pathologie et génétique. Ann Pathol 26 157 (2006) 173-199
19. Friedl W., Uhlhaas S., Schulmann K., Stolte M., Loff S., Back W., et al. Juvenile polyposis: Massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Hum Genet 111 (2002) 108-111
20. Di Blasi A., Marino-Marsilia G., and Boscaino A. Hypertrophic and polypoid gastropathy associated with juvenile adenomatous polyposis coli. Pathologica 92 (2000) 78-81
21. Sakaki N., Iida Y., Okazaki Y., Kawamura S., and Takemoto T. Magnifying endoscopic observation of the gastric mucosa, particularly in patients with atrophic gastritis. Endoscopy 10 (1978) 269-274
22. Woodford-Richens K., Bevan S., Churchman M., Dowling B., Jones D., Norbury C.G., et al. Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut 46 (2000) 656-660
23. Sayed M.G., Ahmed A.F., Ringold J.R., Anderson M.E., Bair J.L., Mitros F.A., et al. Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. Ann Surg Oncol 9 (2002) 901-906
24. Roth S., Sistonen P., Salovaara R., Hemminki A., Loukola A., Johansson M., et al. SMAD genes in juvenile polyposis. Genes Chromosomes Cancer 26 (1999) 54-61
25. Kim I.J., Ku J.L., Yoon K.A., Heo S.C., Jeong S.Y., Choi H.S., et al. Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. Int J Cancer 86 (2000) 529-532
26. Rozen P., Samuel Z., Brazowski E., Jakubowicz M., Rattan J., and Halpern Z. An audit of familial juvenile polyposis at the Tel Aviv Medical Center: Demographic, genetic and clinical features. Fam Cancer 2 (2003) 1-7
27. Howe J.R., Shellnut J., Wagner B., Ringold J.C., Sayed M.G., Ahmed A.F., et al. Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot. Am J Hum Genet 70 (2002) 1357-1362
28. Subramony C., Scott-Conner C.E., Skelton D., and Hall T.J. Familial juvenile polyposis. Study of a kindred: Evolution of polyps and relationship to gastrointestinal carcinoma. Am J Clin Pathol 102 (1994) 91-97
29. Howe J.R., Mitros F.A., and Summers R.W. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol 5 (1998) 751-756