Difference between revisions of "Familial adenomatous polyposis"
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'''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 FAP 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 ([[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. | ||
Revision as of 20:20, 7 May 2012
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]
General
- Life expectancy 40-50 years.[3]
Leading causes of death in FAP (according to The American Society of Colon and Rectal Surgeons):[4]
- Colorectal carcinoma.
- Desmoid tumour
- Ampullary adenocarcinoma (duodenal adenocarcinoma).
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.[5]
- As one my think... they tend to get cancer later than (the plain vanilla) FAP.
- Less polyps - typically 10 to 100.[5]
Gardner syndrome
FAP with prominent extraintestinal manifestations - including:[5]
- Osteomas.
- Desmoid tumours.
- Congenital hypertrophy of the retinal pigment epithelium.
- Fibromas.
- Epidermal inclusion cysts.[2]
- Osteosclerotic jaw lesions.[2]
Mneumonic DO STOP (modified):[6]
- Desmoid-type fibromatosis.
- Osteoma.
- Sebaceous cysts.[7]
- Thyroid carinoma - papillary thyroid carcinoma cribriform morular variant.[2]
- Osteosclerotic jaw lesions.
- Polyps, adenomatous.
Note:
- Osteochondroma does not appear to be part of the syndrome, as suggested by pathologyexpert.com.[6]
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]
FAP associations
Benign things:
Malignant tumours:[5]
- Hepatoblastoma.
- Medulloblastoma.
- Colorectal carcinoma.
- Gastric adenocarcinoma.
- Papillary thyroid carcinoma cribriform-morular variant.[9]
Benign tumours:[5]
Prevalence
1/11,300-37,600 in Europe.[5]
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
- ↑ 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.
- ↑ URL: http://www.fascrs.org/physicians/education/core_subjects/2006/fap/. Accessed on: 7 May 2012.
- ↑ 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/. 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 - ↑ 6.0 6.1 URL: http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm. Accessed on: 26 November 2011.
- ↑ 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.
- ↑ 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.