Difference between revisions of "Familial adenomatous polyposis"

Jump to navigation Jump to search
m
→‎Gardner syndrome: Craniopharyngioma
m (→‎Gardner syndrome: Craniopharyngioma)
 
(21 intermediate revisions by 2 users not shown)
Line 1: Line 1:
[[Image:Familial Adenomatous Polyposes colon -2.jpg|thumb|right|250px|[[Colectomy]] specimen with familial adenomatous polyposis. (WC/Netha Hussain)]]
[[Image:FAP.jpg|thumb|right|An endoscopic image showing abundant polyps, as seen in familial adenomatous polyposis. (WC/Samir)]]
'''Familial adenomatous polyposis''', abbreviated '''FAP''' and also known as '''familial polyposis coli''' and '''adenomatous polyposis coli‎''', is a genetic condition that predisposes to [[adenomatous polyps]] and thus invariably results in [[colorectal cancer]].
'''Familial adenomatous polyposis''', abbreviated '''FAP''' and also known as '''familial polyposis coli''' and '''adenomatous polyposis coli‎''', is a genetic condition that predisposes to [[adenomatous polyps]] and thus invariably results in [[colorectal cancer]].


'''Gardner syndrome'''<ref name=pmid14902760>{{Cite journal  | last1 = GARDNER | first1 = EJ. | title = A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. | journal = Am J Hum Genet | volume = 3 | issue = 2 | pages = 167-76 | month = Jun | year = 1951 | doi =  | PMID = 14902760 }}</ref> is a subset of FAP. Both FAP and Gardner syndrome have a mutation in the FAP gene.<ref name=omim175100>{{OMIM|175100}}</ref>
'''Gardner syndrome'''<ref name=pmid14902760>{{Cite journal  | last1 = Gardner | first1 = EJ. | title = A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. | journal = Am J Hum Genet | volume = 3 | issue = 2 | pages = 167-76 | month = Jun | year = 1951 | doi =  | PMID = 14902760 }}</ref> is a subset of FAP. Both FAP and Gardner syndrome have a mutation in the APC gene.<ref name=omim175100>{{OMIM|175100}}</ref>


==Inheritance==
==General==
*Life expectancy 40-50 years.<ref>{{Cite journal  | last1 = Iwama | first1 = T. | last2 = Tamura | first2 = K. | last3 = Morita | first3 = T. | last4 = Hirai | first4 = T. | last5 = Hasegawa | first5 = H. | last6 = Koizumi | first6 = K. | last7 = Shirouzu | first7 = K. | last8 = Sugihara | first8 = K. | last9 = Yamamura | first9 = T. | title = A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan. | journal = Int J Clin Oncol | volume = 9 | issue = 4 | pages = 308-16 | month = Aug | year = 2004 | doi = 10.1007/s10147-004-0414-4 | PMID = 15375708 }}</ref>
 
Leading causes of death in FAP (according to ''The American Society of Colon and Rectal Surgeons''):<ref>URL: [http://www.fascrs.org/physicians/education/core_subjects/2006/fap/ http://www.fascrs.org/physicians/education/core_subjects/2006/fap/]. Accessed on: 7 May 2012.</ref>
#[[Colorectal carcinoma]].
#[[Desmoid tumour]].
#[[Ampullary adenocarcinoma]] (a type of ''duodenal adenocarcinoma'').
 
===Inheritance===
*Autosomal dominant.
*Autosomal dominant.


==Gene==
===Gene===
*APC gene<ref name=omim175100>{{OMIM|175100}}</ref> mutation.
*APC gene<ref name=omim175100>{{OMIM|175100}}</ref> mutation.


==Variants==
==Variants==
FAP comes in two main flavours:
FAP comes in two main flavours:
#FAP (no otherwise specified - the plain vanilla flavour).
#FAP (not otherwise specified - the plain vanilla flavour).
#*Many polyps - typically > 100.
#*Many polyps - typically > 100.
#Attenuated FAP, abbreviated AFAP.
#Attenuated FAP, abbreviated AFAP.
#*Less polyps - typically 10 to 100.<ref name=pmid19822006>{{cite journal |author=Half E, Bercovich D, Rozen P |title=Familial adenomatous polyposis |journal=Orphanet J Rare Dis |volume=4 |issue= |pages=22 |year=2009 |pmid=19822006 |pmc=2772987 |doi=10.1186/1750-1172-4-22 |url=}}</ref>
#*Less polyps - typically 10 to 100.<ref name=pmid19822006/>
#**As one my think... they tend to get cancer later than (the plain vanilla) FAP.
#**As one may think... they tend to get cancer later than (the plain vanilla) FAP.
 
#**In a cohort of 190 individuals, median number of polyps = 25.<ref name=pmid20105204>{{Cite journal | last1 = Knudsen | first1 = AL. | last2 = Bülow | first2 = S. | last3 = Tomlinson | first3 = I. | last4 = Möslein | first4 = G. | last5 = Heinimann | first5 = K. | last6 = Christensen | first6 = IJ. | last7 = Aretz | first7 = S. | last8 = Berk | first8 = T. | last9 = Bertario | first9 = L. | title = Attenuated familial adenomatous polyposis: results from an international collaborative study. | journal = Colorectal Dis | volume = 12 | issue = 10 Online | pages = e243-9 | month = Oct | year = 2010 | doi = 10.1111/j.1463-1318.2010.02218.x | PMID = 20105204 }}</ref>
===Gardner syndrome===
===Gardner syndrome===
FAP with prominent extraintestinal manifestations - including:<ref name=pmid19822006>{{Cite journal | last1 = Half | first1 = E. | last2 = Bercovich | first2 = D. | last3 = Rozen | first3 = P. | title = Familial adenomatous polyposis. | journal = Orphanet J Rare Dis | volume = 4 | issue = | pages = 22 | month = | year = 2009 | doi = 10.1186/1750-1172-4-22 | PMID = 19822006 | PMC = 2772987}}</ref>
FAP with prominent extraintestinal manifestations - including:<ref name=pmid19822006>{{cite journal |author=Half E, Bercovich D, Rozen P |title=Familial adenomatous polyposis |journal=Orphanet J Rare Dis |volume=4 |issue= |pages=22 |year=2009 |pmid=19822006 |pmc=2772987 |doi=10.1186/1750-1172-4-22 |url=}}</ref>
*[[Osteoma]]s.
*[[Osteoma]]s.
*[[Desmoid tumour]]s.
*[[Desmoid tumour]]s.
Line 24: Line 34:
*[[Fibroma]]s.
*[[Fibroma]]s.
*[[Epidermal inclusion cyst]]s.<ref name=omim175100>{{OMIM|175100}}</ref>  
*[[Epidermal inclusion cyst]]s.<ref name=omim175100>{{OMIM|175100}}</ref>  
**Considered useless for screening as they are so common otherwise. Multiple [[lipoma]]s are statistically more common; however, they are also useless.<ref name=pmid22135120>{{Cite journal  | last1 = Burger | first1 = B. | last2 = Cattani | first2 = N. | last3 = Trueb | first3 = S. | last4 = de Lorenzo | first4 = R. | last5 = Albertini | first5 = M. | last6 = Bontognali | first6 = E. | last7 = Itin | first7 = C. | last8 = Schaub | first8 = N. | last9 = Itin | first9 = PH. | title = Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? | journal = Oncologist | volume = 16 | issue = 12 | pages = 1698-705 | month =  | year = 2011 | doi = 10.1634/theoncologist.2011-0244 | PMID = 22135120 }}</ref>
*Osteosclerotic jaw lesions.<ref name=omim175100>{{OMIM|175100}}</ref>
*Osteosclerotic jaw lesions.<ref name=omim175100>{{OMIM|175100}}</ref>
 
*[[Craniopharyngioma]].<ref>{{Cite journal  | last1 = Aquilina | first1 = K. | last2 = O'Brien | first2 = DF. | last3 = Farrell | first3 = MA. | last4 = Bolger | first4 = C. | title = Primary cerebellopontine angle craniopharyngioma in a patient with gardner syndrome. Case report and review of the literature. | journal = J Neurosurg | volume = 105 | issue = 2 | pages = 330-3 | month = Aug | year = 2006 | doi = 10.3171/jns.2006.105.2.330 | PMID = 17219843 }}</ref>


Mneumonic ''DO STOP'' (modified):<ref name=pathologyexpert>URL: [http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm]. Accessed on: 26 November 2011.</ref>
Mneumonic ''DO STOP'' (modified):<ref name=pathologyexpert>URL: [http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm]. Accessed on: 26 November 2011.</ref>
*[[Desmoid-type fibromatosis]].
*[[Desmoid-type fibromatosis]].
*[[Osteoma]].
*[[Osteoma]].
*Sebaceous cysts.<ref name=pmid16411234>{{Cite journal  | last1 = Bisgaard | first1 = ML. | last2 = Bülow | first2 = S. | title = Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. | journal = Am J Med Genet A | volume = 140 | issue = 3 | pages = 200-4 | month = Feb | year = 2006 | doi = 10.1002/ajmg.a.31010 | PMID = 16411234 }}</ref>
*Skin lesions - multiple [[lipoma]]s.<ref name=pmid22135120>{{Cite journal  | last1 = Burger | first1 = B. | last2 = Cattani | first2 = N. | last3 = Trueb | first3 = S. | last4 = de Lorenzo | first4 = R. | last5 = Albertini | first5 = M. | last6 = Bontognali | first6 = E. | last7 = Itin | first7 = C. | last8 = Schaub | first8 = N. | last9 = Itin | first9 = PH. | title = Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? | journal = Oncologist | volume = 16 | issue = 12 | pages = 1698-705 | month = | year = 2011 | doi = 10.1634/theoncologist.2011-0244 | PMID = 22135120 }}</ref>
*Thyroid carinoma - [[papillary thyroid carcinoma cribriform morular variant]].<ref name=omim175100>{{OMIM|175100}}</ref>
*Thyroid carcinoma - [[papillary thyroid carcinoma cribriform morular variant]].<ref name=omim175100>{{OMIM|175100}}</ref>
*Osteosclerotic jaw lesions.
*Osteosclerotic jaw lesions.
*Polyps, adenomatous.
*Polyps, adenomatous.
Line 37: Line 48:
Note:
Note:
*[[Osteochondroma]] does ''not'' appear to be part of the syndrome, as suggested by ''pathologyexpert.com''.<ref name=pathologyexpert>URL: [http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm]. Accessed on: 26 November 2011.</ref>
*[[Osteochondroma]] does ''not'' appear to be part of the syndrome, as suggested by ''pathologyexpert.com''.<ref name=pathologyexpert>URL: [http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm]. Accessed on: 26 November 2011.</ref>
*‡ [[Sebaceous cyst]]s are considered the classic lesion;<ref name=pathologyexpert>URL: [http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm]. Accessed on: 26 November 2011.</ref><ref name=pmid16411234>{{Cite journal  | last1 = Bisgaard | first1 = ML. | last2 = Bülow | first2 = S. | title = Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. | journal = Am J Med Genet A | volume = 140 | issue = 3 | pages = 200-4 | month = Feb | year = 2006 | doi = 10.1002/ajmg.a.31010 | PMID = 16411234 }}</ref> however, they are not considered a useful predictor of FAP.<ref name=pmid22135120/>


===Turcot syndrome===
===Turcot syndrome===
The term is somewhat ambiguous and probably ought to be avoided:  
The term is somewhat ambiguous and probably ought to be avoided:  
*Half ''et al.''<ref name=pmid19822006>{{Cite journal  | last1 = Half | first1 = E. | last2 = Bercovich | first2 = D. | last3 = Rozen | first3 = P. | title = Familial adenomatous polyposis. | journal = Orphanet J Rare Dis | volume = 4 | issue =  | pages = 22 | month =  | year = 2009 | doi = 10.1186/1750-1172-4-22 | PMID = 19822006 | PMC = 2772987}}</ref> says Turcot syndrome is FAP associated with a [[medulloblastoma]]... while OMIM says Turcot syndrome is tied to [[Lynch syndrome]] and autosomal recessive.<ref name=omim175100>{{OMIM|175100}}</ref>
*Half ''et al.''<ref name=pmid19822006/> says Turcot syndrome is FAP associated with a [[medulloblastoma]]... while OMIM says Turcot syndrome is tied to [[Lynch syndrome]] and autosomal recessive.<ref name=omim175100>{{OMIM|175100}}</ref>
**The discussions by Half ''et al.''<ref name=pmid19822006/> and in [[OMIM]]<ref name=omim175100>{{OMIM|175100}}</ref> are informative.
**The discussions by Half ''et al.''<ref name=pmid19822006/> and in [[OMIM]]<ref name=omim175100>{{OMIM|175100}}</ref> are informative.


Line 60: Line 72:
==Prevalence==
==Prevalence==
1/11,300-37,600 in Europe.<ref name=pmid19822006>{{cite journal |author=Half E, Bercovich D, Rozen P |title=Familial adenomatous polyposis |journal=Orphanet J Rare Dis |volume=4 |issue= |pages=22 |year=2009 |pmid=19822006 |pmc=2772987 |doi=10.1186/1750-1172-4-22 |url=}}</ref>
1/11,300-37,600 in Europe.<ref name=pmid19822006>{{cite journal |author=Half E, Bercovich D, Rozen P |title=Familial adenomatous polyposis |journal=Orphanet J Rare Dis |volume=4 |issue= |pages=22 |year=2009 |pmid=19822006 |pmc=2772987 |doi=10.1186/1750-1172-4-22 |url=}}</ref>
==Sign out==
===Possible polyposis===
*Numerous tubular adenoma (10+) in short time period (<1 year).
<pre>
Comment:
The prior pathology is noted. The number of polyps raises the possibility of a polyposis syndrome.
</pre>


==See also==
==See also==
Account-creators
1,040

edits

Navigation menu