Pathology of the Gastrointestinal Tract

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

Polyposis Syndromes

  • Arzu Ensari
Reference work entry
DOI: https://doi.org/10.1007/978-3-319-40560-5_1531

Synonyms

Gastrointestinal polyposis syndromes; Hereditary polyposis syndromes

Definition

Gastrointestinal polyposis syndrome is characterized by the presence of at least 15 polyps dispersed throughout the gastrointestinal tract. Most polyposis syndromes however present with hundreds of polyps in the gastrointestinal tract. These are rare, autosomal dominant syndromes characterized by multiple polyps and a high risk for gastrointestinal and extraintestinal cancer. Polyposis syndromes are classified by the polyp type, age of presentation, gastrointestinal distribution, number of polyps, presence of extraintestinal findings, and the underlying germline genetic abnormality. They are characterized and named by the predominant polyp type (e.g., juvenile polyp and juvenile polyposis syndrome). Extraintestinal findings include congenital retinal hypertrophy, osteomas, perioral pigmentation, epidermoid cysts, subcutaneous lipomas, sebaceous gland tumors, medulloblastoma, and hepatoblastoma....
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References and Further Reading

  1. Bronner, M. P. (2003). Gastrointestinal inherited polyposis syndromes. Modern Pathology, 16(4), 359–365.CrossRefGoogle Scholar
  2. Brosens, L. A. A., van Hattem, W. A., Marnix, J., Jansen, M., Wendy, W. J., de Leng, W. W. J., Giardiello, F. M., & Offerhaus, G. J. A. (2007). Gastrointestinal polyposis syndromes. Current Molecular Medicine, 7, 29.CrossRefGoogle Scholar
  3. Jelsig, A. M., Qvist, N., Brusgaard, K., Nielsen, C. B., Hansen, T. P., & Ousager, L. B. (2014). Hamartomatous polyposis syndromes: A review. Orphanet Journal of Rare Diseases, 9, 101–111.CrossRefGoogle Scholar
  4. Kastrinos, F., & Syngal, S. (2011). Inherited colorectal cancer syndromes. Cancer Journal, 17(6), 405–415.CrossRefGoogle Scholar
  5. Lynch, H. T., Lynch, J. F., & Shaw, T. G. (2011). Hereditary gastrointestinal cancer syndromes. Gastrointestinal Cancer Research, 4(Suppl 1), S9–S17.PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2017

Authors and Affiliations

  1. 1.Department of PathologyAnkara University Medical SchoolSihhiye, AnkaraTurkey