The DOI matches its Crossref record; 83 of the 83 references it cites were found in a registry or an index.
Extra-Intestinal Manifestations of Familial Adenomatous Polyposis
Open accessAbstract
Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder, which results from a germ line mutation in the APC (adenomatous polyposis coli) gene. FAP is characterized by the formation of hundreds to thousands of colorectal adenomatous polyps. Although the development of colorectal cancer stands out as the most prevalent complication, FAP is a multisystem disorder of growth. This means, it is comparable to other diseases such as the MEN syndromes, Von Hippel-Lindau disease and neurofibromatosis. However, the incidence of many of its clinical features is much lower. Therefore, a specialized multidisciplinary approach to optimize health care-common for other disorders-is not usually taken for FAP patients. Thus, clinicians that care for and counsel members of high-risk families should have familiarity with all the extra-intestinal manifestations of this syndrome. FAP-related complications, for which medical attention is essential, are not rare and their estimated lifetime risk presumably exceeds 30%. Affected individuals can develop thyroid and pancreatic cancer, hepatoblastomas, CNS tumors (especially medulloblastomas), and various benign tumors such as adrenal adenomas, osteomas, desmoid tumors and dental abnormalities. Due to improved longevity, as a result of better prevention of colorectal cancer, the risk of these clinical problems will further increase. We present a clinical overview of extra-intestinal manifestations, including management and treatment options for the FAP syndrome. Furthermore, we provide recommendations for surveillance of FAP complications based on available literature.
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Cites
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BackgroundAPC, Signal transduction and genetic instability in colorectal cancer
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Cited by
Stoffel, E. M., Mangu, P. B., Gruber, S. B., Hamilton, S. R., Kalady, M. F., Lau, M. W. Y., Lu, K. H., Roach, N., & Limburg, P. J. (2015) · Journal of Clinical Oncology · doi:10.1200/jco.2014.58.1322 · Cited by 373
ARMC5 Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia
Alencar, G. A., Lerario, A. M., Nishi, M. Y., Mariani, B. M. D. P., Almeida, M. Q., Tremblay, J., Hamet, P., Bourdeau, I., Zerbini, M. C. N., Pereira, M. A. A., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-4237 · Cited by 162
Surveillance for neoplasia in the pancreas
Overbeek, K. A., Cahen, D. L., Canto, M. I., & Bruno, M. J. (2016) · Best Practice & Research Clinical Gastroenterology · doi:10.1016/j.bpg.2016.10.013 · Cited by 28
Metadata
- Authors
- Groen, E. J., Roos, A., Muntinghe, F. L., Enting, R. H., de Vries, J., Kleibeuker, J. H., Witjes, M. J. H., Links, T. P., & van Beek, A. P.
- Venue
- Annals of Surgical Oncology
- Published
- 2008-07-09
- Volume
- 15
- Issue
- 9
- Pages
- 2439-2450
- ISSN
- 1068-9265 (ISSN-L)
- 1534-4681
- OpenAlex
- W2036213334
- Cited by
- 261
- References
- 83
- FWCI
- 9.90
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- CoChat. (2026). Citation check: Extra-Intestinal Manifestations of Familial Adenomatous Polyposis. https://app.cochat.ai/papers/10.1245/s10434-008-9981-3
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- Groen, E. J., Roos, A., Muntinghe, F. L., Enting, R. H., de Vries, J., Kleibeuker, J. H., Witjes, M. J. H., Links, T. P., & van Beek, A. P. (2008). Extra-Intestinal Manifestations of Familial Adenomatous Polyposis. Annals of Surgical Oncology. https://doi.org/10.1245/s10434-008-9981-3
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
