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 | #*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> | ||
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**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> | **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> | 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> | ||
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*[[Osteoma]]. | *[[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> ‡ | *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 | *Thyroid carcinoma - [[papillary thyroid carcinoma cribriform morular variant]].<ref name=omim175100>{{OMIM|175100}}</ref> | ||
*Osteosclerotic jaw lesions. | *Osteosclerotic jaw lesions. | ||
*Polyps, adenomatous. | *Polyps, adenomatous. | ||
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===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 | *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. | ||
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==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)
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]
- Colorectal carcinoma.
- Desmoid tumour.
- Ampullary adenocarcinoma (a type of duodenal adenocarcinoma).
Inheritance
- Autosomal dominant.
Gene
- APC gene[2] mutation.
Variants
FAP comes in two main flavours:
- FAP (not otherwise specified - the plain vanilla flavour).
- Many polyps - typically > 100.
- Attenuated FAP, abbreviated AFAP.
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]
- Craniopharyngioma.[8]
Mneumonic DO STOP (modified):[9]
- Desmoid-type fibromatosis.
- Osteoma.
- Skin lesions - multiple lipomas.[7] ‡
- Thyroid carcinoma - 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.[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]
FAP associations
Benign things:
Malignant tumours:[5]
- Hepatoblastoma.
- Medulloblastoma.
- Colorectal carcinoma.
- Gastric adenocarcinoma.
- Papillary thyroid carcinoma cribriform-morular variant.[12]
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
- 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/.
- ↑ 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.
- ↑ 7.0 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.
- ↑ 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.
- ↑ 9.0 9.1 9.2 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.