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:
- FAP (no otherwise specified - the plain vanilla flavour).
- Many polyps - typically > 100.
- 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.
- Less polyps - typically 10 to 100.[3]
Gardner syndrome
FAP with prominent extraintestinal manifestations - including:[3]
- Osteomas.
- Desmoid tumours.
- Congenital hypertrophy of the retinal pigment epithelium.
- Fibromas.
- Epidermal inclusion cysts.[2]
- Osteosclerotic jaw lesions.[2]
Mneumonic DO STOP:[4]
- Desmoid-type fibromatosis.
- Osteoma.
- Sebaceous cysts.
- Thyroid carinoma - papillary thyroid carcinoma cribriform morular variant.[2]
- Osteochondroma.
- Polyps.
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]
FAP associations
Benign things:
Malignant tumours:[3]
- Hepatoblastoma.
- Medulloblastoma.
- Colorectal carcinoma.
- Gastric adenocarcinoma.
- Papillary thyroid carcinoma, cribriform-morular variant.[6]
Benign tumours:[3]
Prevalence
1/11,300-37,600 in Europe.[3]
See also
- Colorectal carcinoma.
- Adenomatous polyps.
- MUTYH polyposis syndrome - an autosomal recessive polyposis syndrome.
References
- ↑ 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.
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 Online 'Mendelian Inheritance in Man' (OMIM) 175100
- ↑ 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 - ↑ URL: http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm. Accessed on: 26 November 2011.
- ↑ 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.
- ↑ 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.