Familial adenomatous polyposis pathophysiology: Difference between revisions
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* Familial adenomatous polyposis has [[autosomal recessive]] inheritance pattern if it results from mutations in the [[MUTYH|''MUTYH'' gene]]. | * Familial adenomatous polyposis has [[autosomal recessive]] inheritance pattern if it results from mutations in the [[MUTYH|''MUTYH'' gene]]. | ||
==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 gastrointestinal and extra intestinal 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> | ||
=== Gastrointestinal conditions === | |||
* [[Adenoma|Duodenal adenoma]] | * [[Adenoma|Duodenal adenoma]] | ||
* [[Adenoma|Stomach adenoma]] | * [[Adenoma|Stomach adenoma]] | ||
* Periampullary cancer | * Periampullary cancer | ||
** The risk is approximately 10%. | ** The risk is approximately 10%. | ||
* [[Pancreatic cancer]] | * [[Pancreatic cancer]] | ||
*[[Hepatoblastoma]] | *[[Hepatoblastoma]] | ||
*[[Medulloblastoma]] | |||
=== Extra intestinal conditions === | |||
* Adrenal masses | |||
* [[Desmoid tumor]] | |||
** The risk is approximately 6%-12%. | |||
** It mostly happens in [[Small intestine|small bowel]] [[mesentery]]. | |||
* [[Papillary thyroid cancer]] | |||
* [[Medulloblastoma]] | |||
*[[Osteoma|Osteomas]] | |||
**It is a benign bony growth mainly on jaw | |||
*Congenital hypertrophy of the retinal pigment epithelium | |||
*Epidermoid cysts and fibromas | |||
==Gross Pathology== | ==Gross Pathology== |
Revision as of 17:30, 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 gastrointestinal and extra intestinal conditions including:[1]
Gastrointestinal conditions
- Duodenal adenoma
- Stomach adenoma
- Periampullary cancer
- The risk is approximately 10%.
Extra intestinal conditions
- Adrenal masses
- Desmoid tumor
- The risk is approximately 6%-12%.
- It mostly happens in small bowel mesentery.
- Papillary thyroid cancer
- Medulloblastoma
- Osteomas
- It is a benign bony growth mainly on jaw
- Congenital hypertrophy of the retinal pigment epithelium
- Epidermoid cysts and fibromas