Hamartoma risk factors: Difference between revisions
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==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><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> | *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> | ||
:*[[Cowden syndrome]]: caused by an [[autosomal dominant]] genetic mutation in [[PTEN (gene)|PTEN]] gene. | :*[[Cowden syndrome]]: caused by an [[autosomal dominant]] genetic mutation in [[PTEN (gene)|PTEN]] gene. | ||
:*[[Peutz-Jeghers syndrome]] | :*[[Peutz-Jeghers syndrome]] |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]
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]
- Cowden syndrome: caused by an autosomal dominant genetic mutation in PTEN gene.
- Peutz-Jeghers syndrome
- 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.