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Juvenile Polyposis Syndrome


Authors: P. Vasovčák 1;  L. Foretová 2;  A. Puchmajerová 1;  A. Křepelová 1
Authors place of work: Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha 1;  Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav, Brno 2
Published in the journal: Klin Onkol 2012; 25(Supplementum): 16-17

Summary

Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by the occurrence of juvenile polyps and predisposition to cancer of the gastrointestinal tract (GIT). Characteristic feature of juvenile polyps are irregular cystic glands filled with mucus not observed in other colorectal cancer syndromes. Germline mutations in the SMAD4 and BMPR1A genes are found in 40% of the JP individuals. Hereditary hemorrhagic telangiectasia (HHT) and higher frequency of gastric polyposis are associated mostly with SMAD4 mutations.

Key words:
juvenile polyp – GIT tumors – hereditary hemorrhagic telangiectasia – SMAD4BMPR1A

This study was supported by the project of the research organisation 00064203, by the European  Regional Development Fund and by the national budget of the Czech Republic (OP VaVpI – RECaMO, CZ.1.05/2.1.00/03.0101).

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers

Submitted:
26. 4. 2012

Accepted:
25. 6. 2012


Zdroje

1. Jass JR, Williams CB, Bussey HJ et al. Juvenile polyposis a precancerous condition. Histopathology 1988; 13(6): 619–630.

2. Chow E, Macrae F. A review of juvenile polyposis syndrome. J Gastroenterol Hepatol 2005; 20(11): 1634–1640.

3. Burt RW, Bishop DT, Lynch HT et al. Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer. Bull World Health Organ 1990; 68(5): 655–665.

4. Sachatello CR, Griffen WO Jr. Hereditary polypoid diseases of the gastrointestinal tract: a working classification. Am J Surg 1975; 129(2): 198–203.

5. Howe JR, Mitros FA, Summers RW. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol 1998; 5(8): 751–756.

6. Jass JR. Juvenile polyposis. In: Spiegelman AD, Thomson JP (eds). Familial adenomatous polyposis and other polyposis syndromes. London: Edward Arnold 1994: 203–214.

7. Aretz S, Stienen D, Uhlhaas S et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet 2007; 44(11): 702–709.

8. van Hattem WA, Brosens LA, de Leng WW et al. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut 2008; 57(5): 623–627.

9. Brosens LA, van Hattem WA, Kools MC et al. No TGFBRII germline mutations in juvenile polyposis patients without SMAD4 or BMPR1A mutation. Gut 2009; 58(1): 154–156.

10. Gallione CJ, Richards JA, Letteboer TG et al. SMAD4 mutations found in unselected HHT patients. J Med Genet 2006; 43(10): 793–797.

11. Gallione CJ, Repetto GM, Legius E et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004; 363(9412): 852–859.

12. Oncel M, Church JM, Remzi FH et al. Colonic surgery in patients with juvenile polyposis syndrome: a case series. Dis Colon Rectum 2005; 48(1): 49–55.

13. Scott-Conner CE, Hausmann M, Hall TJ et al. Familial juvenile polyposis: patterns of recurrence and implica­tions for surgical management. J Am Coll Surg 1995; 181(5): 407–413.

Štítky
Paediatric clinical oncology Surgery Clinical oncology

Článok vyšiel v časopise

Clinical Oncology

Číslo Supplementum

2012 Číslo Supplementum
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