Difference between revisions of "Familial adenomatous polyposis"

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#*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 may 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>
#**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>
Line 51: Line 51:
===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.


Revision as of 16:19, 27 December 2016

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):[8]

Note:

  • Osteochondroma does not appear to be part of the syndrome, as suggested by pathologyexpert.com.[8]
  • ‡ Sebaceous cysts are considered the classic lesion;[8][9] 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]

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. ↑ 8.0 8.1 8.2 URL: http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm. Accessed on: 26 November 2011.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 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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