Abstract

Case Report

Frequent, Genetic Polyps-Familial Adenomatous Polyposis

Anubha Bajaj*

Published: 21 May, 2020 | Volume 4 - Issue 1 | Pages: 015-019

Familial adenomatous polyposis is an autosomal dominant syndrome of variable penetration and constitutes the second frequent inherited syndrome enunciating the emergence of a colorectal carcinoma. The syndrome is accompanied by exemplification of defective adenomatous polyposis coli (APC) gene located upon chromosome 5q21 with a prototypic denomination of colonic adenomatous polyps usually exceeding a > 100. Incriminated individuals develop innumerable colonic and rectal polyps, particularly during early teenage years and are accompanied by an almost 100% possible emergence of colorectal carcinoma within 40 years in untreated subjects [1]. Prophylactic colectomy is advisable to substantially reduce possible occurrence of colorectal carcinoma. Familial adenomatous polyposis is concurrent with associated neoplasms such as gastric or duodenal cancer, hepatoblastoma or desmoid tumour along with a probable emergence of extra-colonic carcinomas [1,2].

Read Full Article HTML DOI: 10.29328/journal.acgh.1001017 Cite this Article Read Full Article PDF

References

  1. Kanth P, Grimmett J, Champine M, Burt R, Samadder NJ. Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management. Am J Gastroenterol. 2017; 112:1509-1525. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/28786406
  2. Chintalacheruvu LM, Shaw T, Buddam A, Diab O, Kassim T, et al.  Major hereditary gastrointestinal cancer syndromes: a narrative review. J Gastrointestinal Liver Dis. 2017; 26: 157-163. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/28617886
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  5. DE Marchis ML, Tonelli F, Quaresmini D, Lovero D, Della-Morte D, et al. Desmoid tumours in familial adenomatous polyposis. Anticancer Res. 2017; 37: 3357-3366. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/28668823
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  7. Chittleborough TJ, Warrier SK, Heriot AG, Kalady M, Church J. Dispelling misconceptions in the management of familial adenomatous polyposis. ANZ J Surg. 2017; 87: 441-445. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/28266097
  8. Waller A, Findeis S, Lee MJ. Familial adenomatous polyposis. J Paediatr Genet. 2016; 5: 78-83. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/27617147
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