Difference between revisions of "Familial adenomatous polyposis"

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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 | 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>
*[[Desmoid-type fibromatosis]].
*[[Osteoma]].
*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>{{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 discussion by Half et al. and in OMIM are informative.
**The discussions by Half ''et al.''<ref name=pmid19822006/> and in [[OMIM]]<ref name=omim175100>{{OMIM|175100}}</ref> are informative.


==FAP associations==
==FAP associations==
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*[[Colorectal carcinoma]].
*[[Colorectal carcinoma]].
*[[Gastric adenocarcinoma]].
*[[Gastric adenocarcinoma]].
*[[Papillary thyroid carcinoma]], cribriform-morular variant.<ref name=pmid18612695>{{cite journal |author=Groen EJ, Roos A, Muntinghe FL, ''et al.'' |title=Extra-intestinal manifestations of familial adenomatous polyposis |journal=Ann. Surg. Oncol. |volume=15 |issue=9 |pages=2439–50 |year=2008 |month=September |pmid=18612695 |pmc=2518080 |doi=10.1245/s10434-008-9981-3 |url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518080/?tool=pubmed}}</ref>
*[[Papillary thyroid carcinoma cribriform-morular variant]].<ref name=pmid18612695>{{cite journal |author=Groen EJ, Roos A, Muntinghe FL, ''et al.'' |title=Extra-intestinal manifestations of familial adenomatous polyposis |journal=Ann. Surg. Oncol. |volume=15 |issue=9 |pages=2439–50 |year=2008 |month=September |pmid=18612695 |pmc=2518080 |doi=10.1245/s10434-008-9981-3 |url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518080/?tool=pubmed}}</ref>


Benign tumours:<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>
Benign tumours:<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>
*[[Osteomas]].
*[[Osteoma]]s.
*[[Desmoid tumour]].
*[[Desmoid tumour]].


==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==

Latest revision as of 11:46, 11 October 2019

Colectomy specimen with familial adenomatous polyposis. (WC/Netha Hussain)
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.

Gardner syndrome[1] is a subset of FAP. Both FAP and Gardner syndrome have a mutation in the APC gene.[2]

General

  • Life expectancy 40-50 years.[3]

Leading causes of death in FAP (according to The American Society of Colon and Rectal Surgeons):[4]

  1. Colorectal carcinoma.
  2. Desmoid tumour.
  3. Ampullary adenocarcinoma (a type of duodenal adenocarcinoma).

Inheritance

  • Autosomal dominant.

Gene

  • APC gene[2] mutation.

Variants

FAP comes in two main flavours:

  1. FAP (not otherwise specified - the plain vanilla flavour).
    • Many polyps - typically > 100.
  2. Attenuated FAP, abbreviated AFAP.
    • Less polyps - typically 10 to 100.[5]
      • 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.[6]

Gardner syndrome

FAP with prominent extraintestinal manifestations - including:[5]

Mneumonic DO STOP (modified):[9]

Note:

  • Osteochondroma does not appear to be part of the syndrome, as suggested by pathologyexpert.com.[9]
  • ‡ Sebaceous cysts are considered the classic lesion;[9][10] however, they are not considered a useful predictor of FAP.[7]

Turcot syndrome

The term is somewhat ambiguous and probably ought to be avoided:

  • Half et al.[5] says Turcot syndrome is FAP associated with a medulloblastoma... while OMIM says Turcot syndrome is tied to Lynch syndrome and autosomal recessive.[2]
    • The discussions by Half et al.[5] and in OMIM[2] are informative.

FAP associations

Benign things:

Malignant tumours:[5]

Benign tumours:[5]

Prevalence

1/11,300-37,600 in Europe.[5]

Sign out

Possible polyposis

  • Numerous tubular adenoma (10+) in short time period (<1 year).
Comment: 
The prior pathology is noted. The number of polyps raises the possibility of a polyposis syndrome.

See also

References

  1. ↑ Gardner, EJ. (Jun 1951). "A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum.". Am J Hum Genet 3 (2): 167-76. PMID 14902760.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 Online 'Mendelian Inheritance in Man' (OMIM) 175100
  3. ↑ Iwama, T.; Tamura, K.; Morita, T.; Hirai, T.; Hasegawa, H.; Koizumi, K.; Shirouzu, K.; Sugihara, K. et al. (Aug 2004). "A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan.". Int J Clin Oncol 9 (4): 308-16. doi:10.1007/s10147-004-0414-4. PMID 15375708.
  4. ↑ URL: http://www.fascrs.org/physicians/education/core_subjects/2006/fap/. Accessed on: 7 May 2012.
  5. ↑ 5.0 5.1 5.2 5.3 5.4 5.5 5.6 Half E, Bercovich D, Rozen P (2009). "Familial adenomatous polyposis". Orphanet J Rare Dis 4: 22. doi:10.1186/1750-1172-4-22. PMC 2772987. PMID 19822006. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2772987/.
  6. ↑ Knudsen, AL.; Bülow, S.; Tomlinson, I.; Möslein, G.; Heinimann, K.; Christensen, IJ.; Aretz, S.; Berk, T. et al. (Oct 2010). "Attenuated familial adenomatous polyposis: results from an international collaborative study.". Colorectal Dis 12 (10 Online): e243-9. doi:10.1111/j.1463-1318.2010.02218.x. PMID 20105204.
  7. ↑ 7.0 7.1 7.2 Burger, B.; Cattani, N.; Trueb, S.; de Lorenzo, R.; Albertini, M.; Bontognali, E.; Itin, C.; Schaub, N. et al. (2011). "Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?". Oncologist 16 (12): 1698-705. doi:10.1634/theoncologist.2011-0244. PMID 22135120.
  8. ↑ Aquilina, K.; O'Brien, DF.; Farrell, MA.; Bolger, C. (Aug 2006). "Primary cerebellopontine angle craniopharyngioma in a patient with gardner syndrome. Case report and review of the literature.". J Neurosurg 105 (2): 330-3. doi:10.3171/jns.2006.105.2.330. PMID 17219843.
  9. ↑ 9.0 9.1 9.2 URL: http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm. Accessed on: 26 November 2011.
  10. ↑ Bisgaard, ML.; Bülow, S. (Feb 2006). "Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts.". Am J Med Genet A 140 (3): 200-4. doi:10.1002/ajmg.a.31010. PMID 16411234.
  11. ↑ Freeman HJ (March 2008). "Proton pump inhibitors and an emerging epidemic of gastric fundic gland polyposis". World J. Gastroenterol. 14 (9): 1318-20. PMID 18322941. http://www.wjgnet.com/1007-9327/14/1318.asp.
  12. ↑ Groen EJ, Roos A, Muntinghe FL, et al. (September 2008). "Extra-intestinal manifestations of familial adenomatous polyposis". Ann. Surg. Oncol. 15 (9): 2439–50. doi:10.1245/s10434-008-9981-3. PMC 2518080. PMID 18612695. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518080/?tool=pubmed.
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