Pathology of the Gastrointestinal Tract

2017 Edition
| Editors: Fátima Carneiro, Paula Chaves, Arzu Ensari

Juvenile Polyposis Syndrome, Lower Gastrointestinal Tract

  • Özgür Ekinci
Reference work entry
DOI: https://doi.org/10.1007/978-3-319-40560-5_1504

Synonyms

Combined JP/hereditary hemorrhagic telengiectasia (Osler-Weber-Rendu) syndrome; Gastric JP; Generalized juvenile polyposis (JP); JP coli

Definition

JP is an autosomal dominant hereditary syndrome in which the affected individuals characteristically have multiple juvenile polyps in one or more parts of the GI tract: stomach, small bowel, or colorectum. The patients have increased risk of carcinomas of the stomach and small and large bowel. The juvenile polyps in these patients have the potential to transform to carcinoma.

The syndrome occurs in patients with no family history in roughly half of the cases.

It has been proposed that an individual has JP if at least one of the following criteria is met:
  1. 1.

    >3 or 5 juvenile polyps in the colorectum

     
  2. 2.

    Juvenile polyps present in throughout the GI tract

     
  3. 3.

    Any number of juvenile polyps in an individual with positive family history

     

Clinical Features

  • Incidence

    The incidence is about 0.6–1/100,000 in western countries.

  • Age

    While...

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References and Further Reading

  1. Coburn, M. C., Pricolo, V. E., DeLuca, F. G., & Bland, K. I. (1995). Malignant potential in intestinal juvenile polyposis syndromes. Annals of Surgical Oncology, 2, 386–391.CrossRefPubMedGoogle Scholar
  2. Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Järvinen, H. J., Sistonen, P., Tomlinson, I. P., Houlston, R. S., Bevan, S., Mitros, F. A., Stone, E. M., & Aaltonen, L. A. (1998). Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science, 280, 1086–1088.CrossRefPubMedGoogle Scholar
  3. Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., Mitros, F. A., Petersen, G. M., Velculescu, V. E., Traverso, G., & Vogelstein, B. (2001). Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nature Genetics, 28, 184–187.CrossRefPubMedGoogle Scholar
  4. Jansen, M., de Leng, W. W. J., Baas, A. F., Myoshi, H., Mathus-Vliegen, L., Taketo, M. M., Clevers, H., Giardiello, F. M., & Offerhaus, G. J. A. (2006). Mucosal prolapse in the pathogenesis of Peutz-Jeghers polyposis. Gut, 55, 1–5.CrossRefPubMedPubMedCentralGoogle Scholar
  5. Jass, J. R., Williams, C. B., Bussey, H. J., & Morson, B. C. (1988). Juvenile polyposis – A precancerous condition. Histopathology, 13, 619–630.CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  1. 1.Department of PathologyGazi UniversityAnkaraTurkey