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Familial adenomatous polyposis (view source)
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[[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 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 ( | #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>{{ | #*Less polyps - typically 10 to 100.<ref name=pmid19822006/> | ||
#**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>{{ | 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. | ||
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*[[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'':<ref>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 | *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 carcinoma - [[papillary thyroid carcinoma cribriform morular variant]].<ref name=omim175100>{{OMIM|175100}}</ref> | |||
*Osteosclerotic jaw lesions. | |||
*Polyps, adenomatous. | |||
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> | |||
*‡ [[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 | *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. | ||
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==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== | ||