Hepatoblastoma of early childhood as an indicator of Gardner’s syndrome

Authors

  • Małgorzata Wojnicka-Stolarz Department of Gastroenterology and Hepatology with Internal Disease Unit of Specialist District Hospital in Rzeszow
  • Anna Juza Department of Gastroenterology and Hepatology with Internal Disease Unit of Specialist District Hospital in Rzeszow
  • Robert Staroń Department of Gastroenterology and Hepatology with Internal Disease Unit of Specialist District Hospital in Rzeszow
  • Bogumił Lewandowski Clinical Department of Maxillofacial Surgery of Specialist District Hospital in Rzeszow; Medical Faculty of Rzeszow University https://orcid.org/0000-0002-8045-5093
  • Krzysztof Gutkowski Department of Gastroenterology and Hepatology with Internal Disease Unit of Specialist District Hospital in Rzeszow; Medical Faculty of Rzeszow University

Keywords:

Familial adenomatous polyposis, tumor suppressor gene APC, Gardner’s syndrome

Abstract

Familial adenomatous polyposis (FAP) is a genetically determined disease characterized by the presence of multiple colorectal adenomatous polyps (usually more than 100). FAP and its variants are caused by mutations in the tumor suppressor gene (adenomatous polyposis coli - APC), located on chromosome 5q21-q22 and also MUTYH gene mutation. This syndrome accounts for about 1 percent of all colorectal cancers. FAP connected with APC follows an autosomal dominant pattern, MUTYH gene mutation is recessively inherited, but up to 25 percent cases are due to new or de novo gene mutations. Clinical manifestations of FAP are not only a presence of multiple colorectal polyps, but also a number of extracolonic manifestation associations with this disease. We present a case of Gardner’s syndrome being a rare variant of FAP diagnosed in 21-year-old male patient who has been treated due to hepatoblastoma in early childhood.

Downloads

Download data is not yet available.

References

Ahnen DJ, Axell L. Clinical manifestations and diagnosis of familial adenomatous polyposis, UptoDate 2013, Topic 2593, Version 11.0.

Bonis P, Ahnen DJ, Axell L. Familial adenomatous polyposis and MUTYH associated polyposis: Screening and management of patients and families. UpToDate 2013, Topic 2592 Version 15.0.

Risio M, Venesio T. Genetic and clinical feautures of Familial Adenomatous polyposis (FAP) and Attenuated FAP. Intestinal Polyps and Polyposis, Springer-Verlag, Itala 2009.

Burt RW. Gardner syndrome. UpToDate 2013, Topic 2598, Version 6.0.

Pławski A, Poduralska M, Krokowicz P, et al. Rodzinna polipowatość gruczolakowata jelita grubego. Post N Med 2008;7: 463-471.

Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis 2009; 12;4:22.

Sturt NJH, Gallagher MC, Bassett P, et al. Evidence for genetic predisposition to desmoid tumours in familiar adenomatous polyposis independent of the germline APC mutation. Gut 2004;53:1832-1836.

Payne M, Anderson JA, Cook. J. Gardner’s syndrome – a case report. British Dent J 2002;193:383-384.

Takeda Y. Multiple cemental lesions in the jaw bones of patient with Gardner’s syndrome. Virchows Arch A Pathol Anat Histopathol 1987;411:253-256.

Kartheuser A, Walon C, West S, et al. Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation. J Med Genet 1999;36:65–67.

Tudyka VN, Clark SK. Surgical treatment in familial adenomatous polyposis. Ann Gastroenterol 2012; 25:201-206.

Drews M, Banasiewicz T, Krokowicz P, et al. Zespoły polipowatości rodzinnych jelita grubego. Współczesna Onkologia 2006;8:395-400.

Giardiello FM, Petersen GM, Brensinger JD, et al. Hepatoblastoma and APC gene mutation In familial adenomatous polyposis. Gut 1996; 39: 867-869.

Vasen H F A, Möslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008;57:704-713.

Downloads

Published

2013-09-30

How to Cite

Wojnicka-Stolarz, M., Juza, A., Staroń, R., Lewandowski, B., & Gutkowski, K. (2013). Hepatoblastoma of early childhood as an indicator of Gardner’s syndrome. European Journal of Clinical and Experimental Medicine, 11(3), 418–423. Retrieved from https://journals.ur.edu.pl/ejcem/article/view/12639

Issue

Vol. 11 No. 3 (2013): Medical Journal of the Rzeszow University and the National Medicines Institute, Warsaw

Section

CASUISTIC PAPERS

License

Copyright (c) 2013 Medical Journal of the Rzeszow University and the National Medicines Institute, Warsaw

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Our open access policy is in accordance with the Budapest Open Access Initiative (BOAI) definition: this means that articles have free availability on the public Internet, permitting any users to read, download, copy, distribute, print, search, or link to the full texts of these articles, crawl them for indexing, pass them as data to software, or use them for any other lawful purpose, without financial, legal, or technical barriers other than those inseparable from having access to the Internet itself.

All articles are published with free open access under the CC-BY Creative Commons attribution license (the current version is CC-BY, version 4.0). If you submit your paper for publication by the Eur J Clin Exp Med, you agree to have the CC-BY license applied to your work. Under this Open Access license, you, as the author, agree that anyone may download and read the paper for free. In addition, the article may be reused and quoted provided that the original published version is cited. This facilitates freedom in re-use and also ensures that Eur J Clin Exp Med content can be mined without barriers for the research needs.

Most read articles by the same author(s)

1 2 > >>