Hamartoma risk factors
|
Hamartoma Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Hamartoma risk factors On the Web |
|
American Roentgen Ray Society Images of Hamartoma risk factors |
|
Risk calculators and risk factors for Hamartoma risk factors |
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][4][5][6]
- 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.
- ↑ 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.