Familial adenomatous polyposis pathophysiology: Difference between revisions

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==Overview==
==Overview==


Genes involved in the pathogenesis of familial adenomatous polyposis include ''APC'' and ''MUTYH'' genes.
The development of familial adenomatous polyposis is the result of multiple [[Genetics|genetic]] [[Mutation|mutations]]. [[Gene|Genes]] involved in the [[pathogenesis]] of familial adenomatous polyposis include ''[[APC]]'' and ''[[MUTYH]]'' genes. Many patients with familial adenomatous polyposis have a positive [[family history]] of [[colorectal cancer]] or [[Polyp|polyps]]. However, some of the patients with familial adenomatous polyposis may have no previous [[family history]]. Loss of [[APC (gene)|''APC'' gene]] function is believed to be the first event in [[pathogenesis]] of [[Colorectal cancer|colon cancer]] leading to formation of an [[adenoma]]. Three hundred [[Mutation|mutations]] of [[APC (gene)|''APC'' gene]] have been discovered for familial adenomatous polyposis. These mutations have premature [[Stop codon|stop codons]] and lead to a truncated [[protein]]. Familial adenomatous polyposis has [[autosomal dominant]] inheritance pattern if it results from mutations in the [[APC (gene)|''APC'' gene]] and [[autosomal recessive]] inheritance pattern if it results from mutations in the [[MUTYH|''MUTYH'' gene]]. APC gene [[mutation]] is found in 6% of Ashkenazi Jews. Familial adenomatous polyposis is associated with different malignancies including [[stomach cancer]], periampullary cancer, [[pancreatic cancer]], [[hepatoblastoma]], [[Cholangiocarcinoma|bile duct cancer]], [[papillary thyroid cancer]], and [[medulloblastoma]]. [[Duodenum|Duodenal]] [[adenoma]], [[Adrenal mass causes|adrenal masses]], [[desmoid tumor]], [[Osteoma|osteomas]], congenital hypertrophy of the retinal pigment epithelium, [[Epidermoid cyst|epidermoid cysts]], and [[Fibroma|fibromas]] are associated with familial adenomatous polyposis. On [[gross pathology]], numerous [[Polyp|polyps]] are characteristic finding of familial adenomatous polyposis.
 
==Pathophysiology==
==Pathophysiology==


===Pathogenesis===
===Pathogenesis===
[[image:Sporadic Colon Cancer3.jpg|left|frame|Molecular pathogenesis of colon cancer]]
* Familial adenomatous polyposis is a [[Genetics|genetic]] disorder that is caused by mutation in ''[[APC]]'' and ''[[MUTYH]]'' genes.<ref name="KingDozois2000">{{cite journal|last1=King|first1=John E.|last2=Dozois|first2=Roger R.|last3=Lindor|first3=Noralane M.|last4=Ahlquist|first4=David A.|title=Care of Patients and Their Families With Familial Adenomatous Polyposis|journal=Mayo Clinic Proceedings|volume=75|issue=1|year=2000|pages=57–67|issn=00256196|doi=10.4065/75.1.57}}</ref>
* Many of patients with familial adenomatous polyposis have a positive [[family history]] of [[colorectal cancer]] or [[Polyp|polyps]]. However, some of the patients with familial adenomatous polyposis have no previous [[family history]].
* Germline [[Mosaic (genetics)|mosaicism]] might be responsible for sudden manifestation of familial adenomatous polyposis.<ref name="NieuwenhuisVasen2007">{{cite journal|last1=Nieuwenhuis|first1=M.H.|last2=Vasen|first2=H.F.A.|title=Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature|journal=Critical Reviews in Oncology/Hematology|volume=61|issue=2|year=2007|pages=153–161|issn=10408428|doi=10.1016/j.critrevonc.2006.07.004}}</ref>
* Loss of [[APC (gene)|''APC'' gene]] function is believed to be the first event in [[pathogenesis]] of [[Colorectal cancer|colon cancer]] leading to formation of an [[adenoma]].<ref name="HalfBercovich2009">{{cite journal|last1=Half|first1=Elizabeth|last2=Bercovich|first2=Dani|last3=Rozen|first3=Paul|title=Familial adenomatous polyposis|journal=Orphanet Journal of Rare Diseases|volume=4|issue=1|year=2009|pages=22|issn=1750-1172|doi=10.1186/1750-1172-4-22}}</ref>
[[image:Sporadic Colon Cancer3.jpg|left|frame|Molecular pathogenesis of colon cancer<ref name="Kim2014">{{cite journal|last1=Kim|first1=Eun Ran|title=Colorectal cancer in inflammatory bowel disease: The risk, pathogenesis, prevention and diagnosis|journal=World Journal of Gastroenterology|volume=20|issue=29|year=2014|pages=9872|issn=1007-9327|doi=10.3748/wjg.v20.i29.9872}}</ref>]]


[[image:Colitis-associated colon cancer.jpg|left|frame|Molecular pathogenesis of colitis-associated colon cancer]]
[[image:Colitis-associated colon cancer.jpg|left|frame|Molecular pathogenesis of colitis-associated colon cancer<ref name="Kim2014">{{cite journal|last1=Kim|first1=Eun Ran|title=Colorectal cancer in inflammatory bowel disease: The risk, pathogenesis, prevention and diagnosis|journal=World Journal of Gastroenterology|volume=20|issue=29|year=2014|pages=9872|issn=1007-9327|doi=10.3748/wjg.v20.i29.9872}}</ref>]]


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* Familial adenomatous polyposis may have different [[Heredity|inheritance]] patterns and [[Gene|genes]] involved.<ref name="pmid9824584">{{cite journal |vauthors=Brensinger JD, Laken SJ, Luce MC, Powell SM, Vance GH, Ahnen DJ, Petersen GM, Hamilton SR, Giardiello FM |title=Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene |journal=Gut |volume=43 |issue=4 |pages=548–52 |year=1998 |pmid=9824584 |pmc=1727294 |doi= |url=}}</ref>
* Familial adenomatous polyposis may have different [[Heredity|inheritance]] patterns and [[Gene|genes]] involved.<ref name="pmid9824584">{{cite journal |vauthors=Brensinger JD, Laken SJ, Luce MC, Powell SM, Vance GH, Ahnen DJ, Petersen GM, Hamilton SR, Giardiello FM |title=Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene |journal=Gut |volume=43 |issue=4 |pages=548–52 |year=1998 |pmid=9824584 |pmc=1727294 |doi= |url=}}</ref>
* Familial adenomatous polyposis is due to mutations in different genes, including:<ref name="IaquintoFornasarig2008">{{cite journal|last1=Iaquinto|first1=Gaetano|last2=Fornasarig|first2=Mara|last3=Quaia|first3=Michele|last4=Giardullo|first4=Nicola|last5=D'Onofrio|first5=Vittorio|last6=Iaquinto|first6=Salvatore|last7=Di Bella|first7=Simone|last8=Cannizzaro|first8=Renato|title=Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis|journal=Gastrointestinal Endoscopy|volume=67|issue=1|year=2008|pages=61–67|issn=00165107|doi=10.1016/j.gie.2007.07.048}}</ref><ref name="pmid17360473">{{cite journal |vauthors=Amos-Landgraf JM, Kwong LN, Kendziorski CM, Reichelderfer M, Torrealba J, Weichert J, Haag JD, Chen KS, Waller JL, Gould MN, Dove WF |title=A target-selected Apc-mutant rat kindred enhances the modeling of familial human colon cancer |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=104 |issue=10 |pages=4036–41 |year=2007 |pmid=17360473 |pmc=1805486 |doi=10.1073/pnas.0611690104 |url=}}</ref>
* Familial adenomatous polyposis is due to [[Mutation|mutations]] in different [[Gene|genes]], including:<ref name="IaquintoFornasarig2008">{{cite journal|last1=Iaquinto|first1=Gaetano|last2=Fornasarig|first2=Mara|last3=Quaia|first3=Michele|last4=Giardullo|first4=Nicola|last5=D'Onofrio|first5=Vittorio|last6=Iaquinto|first6=Salvatore|last7=Di Bella|first7=Simone|last8=Cannizzaro|first8=Renato|title=Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis|journal=Gastrointestinal Endoscopy|volume=67|issue=1|year=2008|pages=61–67|issn=00165107|doi=10.1016/j.gie.2007.07.048}}</ref><ref name="pmid17360473">{{cite journal |vauthors=Amos-Landgraf JM, Kwong LN, Kendziorski CM, Reichelderfer M, Torrealba J, Weichert J, Haag JD, Chen KS, Waller JL, Gould MN, Dove WF |title=A target-selected Apc-mutant rat kindred enhances the modeling of familial human colon cancer |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=104 |issue=10 |pages=4036–41 |year=2007 |pmid=17360473 |pmc=1805486 |doi=10.1073/pnas.0611690104 |url=}}</ref>
** [[APC (gene)|''APC'' gene]], which is located on [[Chromosome 5 (human)|chromosome 5]] in band q21 or band q22 (5q21-q22)
** [[APC (gene)|''APC'' gene]], which is located on [[Chromosome 5 (human)|chromosome 5]] in band q21 or band q22 (5q21-q22)
*** Three hundred mutations of [[APC (gene)|''APC'' gene]] have been discovered for familial adenomatous polyposis.
*** [[APC (gene)|''APC'' gene]] is a [[tumor suppressor gene]] that has an essential role in [[cell adhesion]], [[signal transduction]] and [[transcriptional regulation]].
*** They have premature [[Stop codon|stop codons]] and lead to a truncated [[protein]].
*** Three hundred [[Mutation|mutations]] of [[APC (gene)|''APC'' gene]] have been discovered for familial adenomatous polyposis.
*** Mutation is seen in 6% of Ashkenazi Jews.
*** These [[Mutation|mutations]] of [[APC (gene)|''APC'' gene]] have premature [[Stop codon|stop codons]] and lead to a truncated [[protein]].
*** Mutation is seen in about 28% of those of Ashkenazi descent with a family history of colorectal cancer.
*** [[APC (gene)|APC gene]] [[mutation]] is seen in 6% of Ashkenazi Jews.<ref name="RoyKhandekar2012">{{cite journal|last1=Roy|first1=Hemant K.|last2=Khandekar|first2=Janardan D.|title=APC Gene Testing for Familial Adenomatosis Polyposis|journal=JAMA|volume=308|issue=5|year=2012|pages=514|issn=0098-7484|doi=10.1001/jama.2012.9516}}</ref>
*** [[APC (gene)|APC gene]] [[mutation]] is seen in about 28% of those of Ashkenazi descent with a family history of [[colorectal cancer]].
** [[MUTYH|''MUTYH'' gene]], which is located on [[Chromosome 1 (human)|chromosome 1]] between bands p34.2 and p32.1 (1p34.3-p32.1)
** [[MUTYH|''MUTYH'' gene]], which is located on [[Chromosome 1 (human)|chromosome 1]] between bands p34.2 and p32.1 (1p34.3-p32.1)
* Familial adenomatous polyposis has [[autosomal dominant]] inheritance pattern if it results from mutations in the [[APC (gene)|''APC'' gene]].
* Familial adenomatous polyposis has [[autosomal dominant]] inheritance pattern if it results from mutations in the [[APC (gene)|''APC'' gene]].
* 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]].
* mutation is found in
6% of Ashkenazi Jews and in about 28% of those of
Ashkenazi descent with a family history of colorectal cancer.


==Associated Conditions==
==Associated Conditions==
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><ref name="KennedyPotter2014">{{cite journal|last1=Kennedy|first1=Raelene D.|last2=Potter|first2=D. Dean|last3=Moir|first3=Christopher R.|last4=El-Youssef|first4=Mounif|title=The natural history of familial adenomatous polyposis syndrome: A 24year review of a single center experience in screening, diagnosis, and outcomes|journal=Journal of Pediatric Surgery|volume=49|issue=1|year=2014|pages=82–86|issn=00223468|doi=10.1016/j.jpedsurg.2013.09.033}}</ref><ref name="KingDozois2000">{{cite journal|last1=King|first1=John E.|last2=Dozois|first2=Roger R.|last3=Lindor|first3=Noralane M.|last4=Ahlquist|first4=David A.|title=Care of Patients and Their Families With Familial Adenomatous Polyposis|journal=Mayo Clinic Proceedings|volume=75|issue=1|year=2000|pages=57–67|issn=00256196|doi=10.4065/75.1.57}}</ref>
Familial adenomatous polyposis is associated with other intestinal and extra intestinal conditions such as:<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><ref name="KennedyPotter2014">{{cite journal|last1=Kennedy|first1=Raelene D.|last2=Potter|first2=D. Dean|last3=Moir|first3=Christopher R.|last4=El-Youssef|first4=Mounif|title=The natural history of familial adenomatous polyposis syndrome: A 24year review of a single center experience in screening, diagnosis, and outcomes|journal=Journal of Pediatric Surgery|volume=49|issue=1|year=2014|pages=82–86|issn=00223468|doi=10.1016/j.jpedsurg.2013.09.033}}</ref><ref name="KingDozois2000">{{cite journal|last1=King|first1=John E.|last2=Dozois|first2=Roger R.|last3=Lindor|first3=Noralane M.|last4=Ahlquist|first4=David A.|title=Care of Patients and Their Families With Familial Adenomatous Polyposis|journal=Mayo Clinic Proceedings|volume=75|issue=1|year=2000|pages=57–67|issn=00256196|doi=10.4065/75.1.57}}</ref>


=== Gastrointestinal conditions ===
=== Gastrointestinal conditions ===
* [[Adenoma|Duodenal adenoma]]
* [[Adenoma|Duodenal adenoma]]
* Stomach cancer
* [[Stomach cancer]]
** The risk is approximately 0.5%.
** The risk is approximately 0.5%.
* Periampullary cancer
* Periampullary cancer
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=== Extra intestinal conditions ===
=== Extra intestinal conditions ===
* Adrenal masses
* [[Adrenal mass causes|Adrenal masses]]
* [[Desmoid tumor]]
* [[Desmoid tumor]]
** The risk is approximately 10% to 20%.
** The risk is approximately 10% to 20%.
Line 55: Line 58:
** The risk is approximately 2% to 25%.
** The risk is approximately 2% to 25%.
* [[Medulloblastoma]]
* [[Medulloblastoma]]
*[[Epidermoid cyst]]<nowiki/>s and [[Fibroma|fibromas]]
*[[Osteoma|Osteomas]]
*[[Osteoma|Osteomas]]
**It is a benign bony growth mainly on jaw
**It is a benign bony growth mainly on jaw
*Congenital hypertrophy of the retinal pigment epithelium
*Congenital hypertrophy of the retinal pigment epithelium
[[image:CHRPE Congenital hypertrophy of the retinal pigment epithelium.jpg|thumb|left|CHRPE - congenital hypertrophy of the retinal pigment epithelium By see above - E. Half, D. Bercovich, P. Rozen. Familial adenomatous polyposis „Orphanet J Rare Dis”. 4, s. 22 (Oct 2009). doi:10.1186/1750-1172-4-22. PMID 19822006., CC BY-SA 2.0,<ref name="urlFile:Congenital hypertrophy of the retinal pigment epithelium.jpg - Wikimedia Commons">{{cite web |url=https://commons.wikimedia.org/w/index.php?curid=8140129 |title=File:Congenital hypertrophy of the retinal pigment epithelium.jpg - Wikimedia Commons |format= |work= |accessdate=}}</ref>]]
[[image:CHRPE Congenital hypertrophy of the retinal pigment epithelium.jpg|thumb|left|CHRPE - congenital hypertrophy of the retinal pigment epithelium By see above - E. Half, D. Bercovich, P. Rozen. Familial adenomatous polyposis „Orphanet J Rare Dis”. 4, s. 22 (Oct 2009). doi:10.1186/1750-1172-4-22. PMID 19822006., CC BY-SA 2.0
Via Wikimedia Commons<ref name="urlFile:Congenital hypertrophy of the retinal pigment epithelium.jpg - Wikimedia Commons">{{cite web |url=https://commons.wikimedia.org/w/index.php?curid=8140129 |title=File:Congenital hypertrophy of the retinal pigment epithelium.jpg - Wikimedia Commons |format= |work= |accessdate=}}</ref>
]]
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*Epidermoid cysts and fibromas


==Gross Pathology==
==Gross Pathology==
[[image:Familial Adenomatous Polyposis intestine.jpg|thumb|left|[[Large intestine]] showing numerous [[polyps]]. By Netha Hussain - Own work, CC BY-SA 3.0,<ref name="urlFile:Familial Adenomatous Polyposis intestine.jpg - Wikimedia Commons">{{cite web |url=https://commons.wikimedia.org/w/index.php?curid=18391700 |title=File:Familial Adenomatous Polyposis intestine.jpg - Wikimedia Commons |format= |work= |accessdate=}}</ref>]]
On [[gross pathology]], numerous [[polyps]] are characteristic findings of familial adenomatous polyposis.
[[image:Familial adenomatous polyposis.jpg|thumb|left|Gross specimen of familial adenomatous polyposis. By Dr. Roshan Nasimudeen - Department of Pathology, Government Medical College, Kozikode, CC BY-SA 3.0,<ref name="urlFile:Familial adenomatous polyposis.jpg - Wikimedia Commons">{{cite web |url=+https://commons.wikimedia.org/w/index.php?curid=63631954 |title=File:Familial adenomatous polyposis.jpg - Wikimedia Commons |format= |work= |accessdate=}}</ref>]]
[[image:Familial Adenomatous Polyposis intestine.jpg|thumb|left|[[Large intestine]] showing numerous [[polyps]]. By Netha Hussain - Own work, CC BY-SA 3.0. <br> Via Wikimedia Commons<ref name="urlFile:Familial Adenomatous Polyposis intestine.jpg - Wikimedia Commons">{{cite web |url=https://commons.wikimedia.org/w/index.php?curid=18391700 |title=File:Familial Adenomatous Polyposis intestine.jpg - Wikimedia Commons |format= |work= |accessdate=}}</ref>]][[image:Familial adenomatous polyposis.jpg|thumb|left|Gross specimen of familial adenomatous polyposis. By Dr. Roshan Nasimudeen - Department of Pathology, Government Medical College, Kozikode, CC BY-SA 3.0.<br> Via Wikimedia Commons<ref name="urlFile:Familial adenomatous polyposis.jpg - Wikimedia Commons">{{cite web |url=+https://commons.wikimedia.org/w/index.php?curid=63631954 |title=File:Familial adenomatous polyposis.jpg - Wikimedia Commons |format= |work= |accessdate=}}</ref>]]
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==Microscopic Pathology==
==Microscopic Pathology==
 
*On microscopic [[Histopathology|histopathological]] analysis, serration of the luminal surface and normal [[Cell nucleus|nuclei]] are characteristic findings of hyperplastic polyps.
*On microscopic [[Histopathology|histopathological]] analysis, branched tubular glands are characteristic findings of tubular [[adenoma]].
*On microscopic [[Histopathology|histopathological]] analysis, long finger-like projections are characteristic findings of villous [[adenoma]].
*On microscopic [[Histopathology|histopathological]] analysis, branched and dilated [[Gland|glands]], no [[Cell biology|cytological]] [[atypia]], [[eosinophilic]] [[cytoplasm]], and luminal [[Epithelium|epithelial]] tufting are characteristic findings of sessile serrated [[adenoma]].
[[Image:Hyperplastic_polyp_of_the_colon,_HE.png|thumb|left|Hyperplastic polyp of the [[Colon (anatomy)|Colon]]. By Patho - Own work, CC BY-SA 3.0. <br>Via Wikimedia Commons <ref>https://commons.wikimedia.org/w/index.php?curid=19409502</ref>]]
[[Image:Hyperplastic_polyp2.jpg|thumb|left|Micrograph of a [[Colon (anatomy)|colorectal]] hyperplastic polyp. [[H&E stain]]. By Nephron - Own work, CC BY-SA 3.0. <br>Via Wikimedia Commons <ref>https://commons.wikimedia.org/w/index.php?curid=6427545</ref>]]
[[Image:Colon_adenoma_(1).jpg|thumb|left|[[Colon (anatomy)|Colon]] [[adenoma]] By No machine-readable author provided. KGH assumed (based on copyright claims). - No machine-readable source provided. Own work assumed (based on copyright claims)., CC BY-SA 3.0. <br>Via Wikimedia Commons <ref>https://commons.wikimedia.org/w/index.php?curid=444694</ref>]]
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==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
​​
​


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Latest revision as of 21:43, 29 July 2020

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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

The development of familial adenomatous polyposis is the result of multiple genetic mutations. Genes involved in the pathogenesis of familial adenomatous polyposis include APC and MUTYH genes. Many patients with familial adenomatous polyposis have a positive family history of colorectal cancer or polyps. However, some of the patients with familial adenomatous polyposis may have no previous family history. Loss of APC gene function is believed to be the first event in pathogenesis of colon cancer leading to formation of an adenoma. Three hundred mutations of APC gene have been discovered for familial adenomatous polyposis. These mutations have premature stop codons and lead to a truncated protein. Familial adenomatous polyposis has autosomal dominant inheritance pattern if it results from mutations in the APC gene and autosomal recessive inheritance pattern if it results from mutations in the MUTYH gene. APC gene mutation is found in 6% of Ashkenazi Jews. Familial adenomatous polyposis is associated with different malignancies including stomach cancer, periampullary cancer, pancreatic cancer, hepatoblastoma, bile duct cancer, papillary thyroid cancer, and medulloblastoma. Duodenal adenoma, adrenal masses, desmoid tumor, osteomas, congenital hypertrophy of the retinal pigment epithelium, epidermoid cysts, and fibromas are associated with familial adenomatous polyposis. On gross pathology, numerous polyps are characteristic finding of familial adenomatous polyposis.

Pathophysiology

Pathogenesis

Molecular pathogenesis of colon cancer[4]
Molecular pathogenesis of colitis-associated colon cancer[4]


Genetics

Associated Conditions

Familial adenomatous polyposis is associated with other intestinal and extra intestinal conditions such as:[9][10][1]

Gastrointestinal conditions

Extra intestinal conditions

CHRPE - congenital hypertrophy of the retinal pigment epithelium By see above - E. Half, D. Bercovich, P. Rozen. Familial adenomatous polyposis „Orphanet J Rare Dis”. 4, s. 22 (Oct 2009). doi:10.1186/1750-1172-4-22. PMID 19822006., CC BY-SA 2.0 Via Wikimedia Commons[11]


Gross Pathology

On gross pathology, numerous polyps are characteristic findings of familial adenomatous polyposis.

Large intestine showing numerous polyps. By Netha Hussain - Own work, CC BY-SA 3.0.
Via Wikimedia Commons[12]
Gross specimen of familial adenomatous polyposis. By Dr. Roshan Nasimudeen - Department of Pathology, Government Medical College, Kozikode, CC BY-SA 3.0.
Via Wikimedia Commons[13]


Microscopic Pathology

Hyperplastic polyp of the Colon. By Patho - Own work, CC BY-SA 3.0.
Via Wikimedia Commons [14]
Micrograph of a colorectal hyperplastic polyp. H&E stain. By Nephron - Own work, CC BY-SA 3.0.
Via Wikimedia Commons [15]
Colon adenoma By No machine-readable author provided. KGH assumed (based on copyright claims). - No machine-readable source provided. Own work assumed (based on copyright claims)., CC BY-SA 3.0.
Via Wikimedia Commons [16]


References

  1. ↑ 1.0 1.1 King, John E.; Dozois, Roger R.; Lindor, Noralane M.; Ahlquist, David A. (2000). "Care of Patients and Their Families With Familial Adenomatous Polyposis". Mayo Clinic Proceedings. 75 (1): 57–67. doi:10.4065/75.1.57. ISSN 0025-6196.
  2. ↑ Nieuwenhuis, M.H.; Vasen, H.F.A. (2007). "Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature". Critical Reviews in Oncology/Hematology. 61 (2): 153–161. doi:10.1016/j.critrevonc.2006.07.004. ISSN 1040-8428.
  3. ↑ Half, Elizabeth; Bercovich, Dani; Rozen, Paul (2009). "Familial adenomatous polyposis". Orphanet Journal of Rare Diseases. 4 (1): 22. doi:10.1186/1750-1172-4-22. ISSN 1750-1172.
  4. ↑ 4.0 4.1 Kim, Eun Ran (2014). "Colorectal cancer in inflammatory bowel disease: The risk, pathogenesis, prevention and diagnosis". World Journal of Gastroenterology. 20 (29): 9872. doi:10.3748/wjg.v20.i29.9872. ISSN 1007-9327.
  5. ↑ Brensinger JD, Laken SJ, Luce MC, Powell SM, Vance GH, Ahnen DJ, Petersen GM, Hamilton SR, Giardiello FM (1998). "Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene". Gut. 43 (4): 548–52. PMC 1727294. PMID 9824584.
  6. ↑ Iaquinto, Gaetano; Fornasarig, Mara; Quaia, Michele; Giardullo, Nicola; D'Onofrio, Vittorio; Iaquinto, Salvatore; Di Bella, Simone; Cannizzaro, Renato (2008). "Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis". Gastrointestinal Endoscopy. 67 (1): 61–67. doi:10.1016/j.gie.2007.07.048. ISSN 0016-5107.
  7. ↑ Amos-Landgraf JM, Kwong LN, Kendziorski CM, Reichelderfer M, Torrealba J, Weichert J, Haag JD, Chen KS, Waller JL, Gould MN, Dove WF (2007). "A target-selected Apc-mutant rat kindred enhances the modeling of familial human colon cancer". Proc. Natl. Acad. Sci. U.S.A. 104 (10): 4036–41. doi:10.1073/pnas.0611690104. PMC 1805486. PMID 17360473.
  8. ↑ Roy, Hemant K.; Khandekar, Janardan D. (2012). "APC Gene Testing for Familial Adenomatosis Polyposis". JAMA. 308 (5): 514. doi:10.1001/jama.2012.9516. ISSN 0098-7484.
  9. ↑ Beech D, Pontius A, Muni N, Long WP (2001). "Familial adenomatous polyposis: a case report and review of the literature". J Natl Med Assoc. 93 (6): 208–13. PMC 2594024. PMID 11446392.
  10. ↑ Kennedy, Raelene D.; Potter, D. Dean; Moir, Christopher R.; El-Youssef, Mounif (2014). "The natural history of familial adenomatous polyposis syndrome: A 24year review of a single center experience in screening, diagnosis, and outcomes". Journal of Pediatric Surgery. 49 (1): 82–86. doi:10.1016/j.jpedsurg.2013.09.033. ISSN 0022-3468.
  11. ↑ "File:Congenital hypertrophy of the retinal pigment epithelium.jpg - Wikimedia Commons".
  12. ↑ "File:Familial Adenomatous Polyposis intestine.jpg - Wikimedia Commons".
  13. ↑ [+https://commons.wikimedia.org/w/index.php?curid=63631954 "File:Familial adenomatous polyposis.jpg - Wikimedia Commons"] Check |url= value (help).
  14. ↑ https://commons.wikimedia.org/w/index.php?curid=19409502
  15. ↑ https://commons.wikimedia.org/w/index.php?curid=6427545
  16. ↑ https://commons.wikimedia.org/w/index.php?curid=444694

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