Familial adenomatous polyposis pathophysiology: Difference between revisions
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==Associated Conditions== | ==Associated Conditions== | ||
Familial adenomatous polyposis is associated with other conditions including:<ref name="pmid11446392">{{cite journal |vauthors=Beech D, Pontius A, Muni N, Long WP |title=Familial adenomatous polyposis: a case report and review of the literature |journal=J Natl Med Assoc |volume=93 |issue=6 |pages=208–13 |year=2001 |pmid=11446392 |pmc=2594024 |doi= |url=}}</ref> | Familial adenomatous polyposis is associated with other conditions including:<ref name="pmid11446392">{{cite journal |vauthors=Beech D, Pontius A, Muni N, Long WP |title=Familial adenomatous polyposis: a case report and review of the literature |journal=J Natl Med Assoc |volume=93 |issue=6 |pages=208–13 |year=2001 |pmid=11446392 |pmc=2594024 |doi= |url=}}</ref> | ||
* | * [[Adenoma|Duodenal adenoma]] | ||
* Stomach adenoma | * [[Adenoma|Stomach adenoma]] | ||
* Desmoid tumor | * [[Desmoid tumor]] | ||
** The risk is approximately 6%-12%. | ** The risk is approximately 6%-12%. | ||
** It mostly happens in small bowel mesentery. | ** It mostly happens in [[Small intestine|small bowel]] [[mesentery]]. | ||
* Periampullary cancer | * Periampullary cancer | ||
** The risk is approximately 10%. | ** The risk is approximately 10%. | ||
* Papillary thyroid cancer | * [[Papillary thyroid cancer]] | ||
* Pancreatic cancer | * [[Pancreatic cancer]] | ||
* | *[[Hepatoblastoma]] | ||
*[[Medulloblastoma]] | |||
==Gross Pathology== | ==Gross Pathology== |
Revision as of 17:25, 25 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2], Mohamad Alkateb, MBBCh [3]
Overview
Genes involved in the pathogenesis of familial adenomatous polyposis include APC and MUTYH genes.
Pathophysiology
Pathogenesis
Genetics
- Familial adenomatous polyposis may have different inheritance patterns and genes involved.
- Familial adenomatous polyposis is due to mutations in different genes, including:
- APC gene, which is located on chromosome 5 in band q21 or band q22 (5q21-q22)
- MUTYH gene, which is located on chromosome 1 between bands p34.2 and p32.1 (5p34.3-p32.1)
- Familial adenomatous polyposis has autosomal dominant inheritance pattern if it results from mutations in the APC gene.
- Familial adenomatous polyposis has autosomal recessive inheritance pattern if it results from mutations in the MUTYH gene.
Associated Conditions
Familial adenomatous polyposis is associated with other conditions including:[1]
- Duodenal adenoma
- Stomach adenoma
- Desmoid tumor
- The risk is approximately 6%-12%.
- It mostly happens in small bowel mesentery.
- Periampullary cancer
- The risk is approximately 10%.
- Papillary thyroid cancer
- Pancreatic cancer
- Hepatoblastoma
- Medulloblastoma