Hamartoma risk factors: Difference between revisions
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{{Hamartoma}} | {{Hamartoma}} | ||
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==Overview== | ==Overview== | ||
The most potent risk factors in the development of hamartomas are familial hamartomatous syndromes | The most potent risk factors in the development of [[hamartomas]] are familial [[Hamartoma|hamartomatous]] syndromes such as: [[Cowden syndrome]], [[Peutz-Jeghers syndrome]], [[juvenile polyposis syndrome]], PTEN [[hamartoma]] tumor syndrome, hereditary mixed [[polyposis]] syndrome, [[tuberous sclerosis]], and [[Bannayan-Riley-Ruvalcaba syndrome]]. | ||
==Risk Factors== | ==Risk Factors== | ||
*The most potent risk factors in the development of hamartomas are familial hamartomatous syndromes. | *The most potent risk factors in the development of hamartomas are familial hamartomatous syndromes. | ||
*Familial syndromes associated with hamartomatous formation, include:<ref name="pmid26739631">{{cite journal |vauthors=Richardson MS |title=Familiar and unfamiliar pseudoneoplastic lesions of the head and neck |journal=Semin Diagn Pathol |volume=33 |issue=1 |pages=24–30 |year=2016 |pmid=26739631 |doi=10.1053/j.semdp.2015.09.004 |url=}}</ref> | *Familial syndromes associated with hamartomatous formation, include:<ref name="pmid26739631">{{cite journal |vauthors=Richardson MS |title=Familiar and unfamiliar pseudoneoplastic lesions of the head and neck |journal=Semin Diagn Pathol |volume=33 |issue=1 |pages=24–30 |year=2016 |pmid=26739631 |doi=10.1053/j.semdp.2015.09.004 |url=}}</ref><ref name="pmid7855339">{{cite journal |vauthors=Brown K, Mund DF, Aberle DR, Batra P, Young DA |title=Intrathoracic calcifications: radiographic features and differential diagnoses |journal=Radiographics |volume=14 |issue=6 |pages=1247–61 |year=1994 |pmid=7855339 |doi=10.1148/radiographics.14.6.7855339 |url=}}</ref><ref name="pmid9467011">{{cite journal |vauthors=Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C |title=Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation |journal=Hum. Mol. Genet. |volume=7 |issue=3 |pages=507–15 |date=March 1998 |pmid=9467011 |doi= |url=}}</ref><ref name="pmid10400993">{{cite journal |vauthors=Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C |title=PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome |journal=Hum. Mol. Genet. |volume=8 |issue=8 |pages=1461–72 |date=August 1999 |pmid=10400993 |doi= |url=}}</ref><ref name="pmid17526800">{{cite journal |vauthors=Lachlan KL, Lucassen AM, Bunyan D, Temple IK |title=Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers |journal=J. Med. Genet. |volume=44 |issue=9 |pages=579–85 |date=September 2007 |pmid=17526800 |pmc=2597943 |doi=10.1136/jmg.2007.049981 |url=}}</ref><ref name="pmid9856571">{{cite journal |vauthors=Zori RT, Marsh DJ, Graham GE, Marliss EB, Eng C |title=Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome |journal=Am. J. Med. Genet. |volume=80 |issue=4 |pages=399–402 |date=December 1998 |pmid=9856571 |doi= |url=}}</ref><ref name="pmid11174374">{{cite journal |vauthors=Wanner M, Celebi JT, Peacocke M |title=Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome |journal=J. Am. Acad. Dermatol. |volume=44 |issue=2 |pages=183–7 |date=February 2001 |pmid=11174374 |doi=10.1067/mjd.2001.110390 |url=}}</ref><ref name="pmid9425897">{{cite journal |vauthors=Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, Müller O, Back W, Zimmer M |title=Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase |journal=Nat. Genet. |volume=18 |issue=1 |pages=38–43 |date=January 1998 |pmid=9425897 |doi=10.1038/ng0198-38 |url=}}</ref><ref name="pmid9428765">{{cite journal |vauthors=Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA |title=A serine/threonine kinase gene defective in Peutz-Jeghers syndrome |journal=Nature |volume=391 |issue=6663 |pages=184–7 |date=January 1998 |pmid=9428765 |doi=10.1038/34432 |url=}}</ref> | ||
:*[[Cowden syndrome]]: caused by an [[autosomal dominant]] genetic mutation in [[PTEN (gene)|PTEN]] gene. | |||
:* | :*[[Peutz-Jeghers syndrome]]:[[Autosomal dominant]] disorder due to [[germline]] [[Mutation|mutations]] in the ''[[STK11]]'' (''LKB1)'' gene. | ||
:*[[Peutz-Jeghers syndrome]] | :*[[Juvenile polyposis syndrome]] | ||
:*Juvenile polyposis syndrome | |||
:*[[PTEN]] hamartoma tumor syndrome | :*[[PTEN]] hamartoma tumor syndrome | ||
:*Hereditary mixed polyposis syndrome | :*Hereditary mixed polyposis syndrome | ||
:*[[Tuberous sclerosis]] | :*[[Tuberous sclerosis]] | ||
:*Bannayan-Riley-Ruvalcaba syndrome | :*[[Bannayan-Riley-Ruvalcaba syndrome]] | ||
==References== | ==References== | ||
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Overview
The most potent risk factors in the development of hamartomas are familial hamartomatous syndromes such as: Cowden syndrome, Peutz-Jeghers syndrome, juvenile polyposis syndrome, PTEN hamartoma tumor syndrome, hereditary mixed polyposis syndrome, tuberous sclerosis, and Bannayan-Riley-Ruvalcaba syndrome.
Risk Factors
- The most potent risk factors in the development of hamartomas are familial hamartomatous syndromes.
- Familial syndromes associated with hamartomatous formation, include:[1][2][3][4][5][6][7][8][9]
- Cowden syndrome: caused by an autosomal dominant genetic mutation in PTEN gene.
- Peutz-Jeghers syndrome:Autosomal dominant disorder due to germline mutations in the STK11 (LKB1) gene.
- Juvenile polyposis syndrome
- PTEN hamartoma tumor syndrome
- Hereditary mixed polyposis syndrome
- Tuberous sclerosis
- Bannayan-Riley-Ruvalcaba syndrome
References
- ↑ Richardson MS (2016). "Familiar and unfamiliar pseudoneoplastic lesions of the head and neck". Semin Diagn Pathol. 33 (1): 24–30. doi:10.1053/j.semdp.2015.09.004. PMID 26739631.
- ↑ Brown K, Mund DF, Aberle DR, Batra P, Young DA (1994). "Intrathoracic calcifications: radiographic features and differential diagnoses". Radiographics. 14 (6): 1247–61. doi:10.1148/radiographics.14.6.7855339. PMID 7855339.
- ↑ Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C (March 1998). "Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation". Hum. Mol. Genet. 7 (3): 507–15. PMID 9467011.
- ↑ Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C (August 1999). "PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome". Hum. Mol. Genet. 8 (8): 1461–72. PMID 10400993.
- ↑ Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
- ↑ Zori RT, Marsh DJ, Graham GE, Marliss EB, Eng C (December 1998). "Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome". Am. J. Med. Genet. 80 (4): 399–402. PMID 9856571.
- ↑ Wanner M, Celebi JT, Peacocke M (February 2001). "Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome". J. Am. Acad. Dermatol. 44 (2): 183–7. doi:10.1067/mjd.2001.110390. PMID 11174374.
- ↑ Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, Müller O, Back W, Zimmer M (January 1998). "Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase". Nat. Genet. 18 (1): 38–43. doi:10.1038/ng0198-38. PMID 9425897.
- ↑ Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA (January 1998). "A serine/threonine kinase gene defective in Peutz-Jeghers syndrome". Nature. 391 (6663): 184–7. doi:10.1038/34432. PMID 9428765.