Difference between revisions of "Familial adenomatous polyposis"

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*[[Epidermal inclusion cyst]]s.<ref name=omim175100>{{OMIM|175100}}</ref>  
*[[Epidermal inclusion cyst]]s.<ref name=omim175100>{{OMIM|175100}}</ref>  
*Osteosclerotic jaw lesions.<ref name=omim175100>{{OMIM|175100}}</ref>
*Osteosclerotic jaw lesions.<ref name=omim175100>{{OMIM|175100}}</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]].
*[[Osteoma]].
*Sebaceous cysts.
*Thyroid carinoma - [[papillary thyroid carcinoma cribriform morular variant]].<ref name=omim175100>{{OMIM|175100}}</ref>
*[[Osteochondroma]].
*Polyps.


===Turcot syndrome===
===Turcot syndrome===

Revision as of 17:24, 26 November 2011

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 FAP gene.[2]

Inheritance

  • Autosomal dominant.

Gene

  • APC gene[2] mutation.

Variants

FAP comes in two main flavours:

  1. FAP (no otherwise specified - the plain vanilla flavour).
    • Many polyps - typically > 100.
  2. Attenuated FAP, abbreviated AFAP.
    • Less polyps - typically 10 to 100.[3]
      • As one my think... they tend to get cancer later than (the plain vanilla) FAP.

Gardner syndrome

FAP with prominent extraintestinal manifestations - including:[3]


Mneumonic DO STOP:[4]

Turcot syndrome

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

  • Half et al.[3] 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.[3] and in OMIM[2] are informative.

FAP associations

Benign things:

Malignant tumours:[3]

Benign tumours:[3]

Prevalence

1/11,300-37,600 in Europe.[3]

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. 3.0 3.1 3.2 3.3 3.4 3.5 3.6 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/. Cite error: Invalid <ref> tag; name "pmid19822006" defined multiple times with different content Cite error: Invalid <ref> tag; name "pmid19822006" defined multiple times with different content Cite error: Invalid <ref> tag; name "pmid19822006" defined multiple times with different content Cite error: Invalid <ref> tag; name "pmid19822006" defined multiple times with different content Cite error: Invalid <ref> tag; name "pmid19822006" defined multiple times with different content
  4. URL: http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm. Accessed on: 26 November 2011.
  5. 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.
  6. 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.