Abstract
Von Hippel-Lindau (VHL) disease is an autosomal dominant familial neoplastic disorder with an estimated birth incidence of approximately 1:36000 live. VHL has intrafamilial variability expression and it is characterized by the predisposition to develop hemangioblastomas of the central nervous system and retina, pheochromocytomas, clear-cell renal carcinoma, adenomas, and carcinomas of the pancreas, paragangliomas, renal and pancreatic cysts, papillary cystadenomas of the epididymis and, rarely, cystadenomas of the endolymphatic sac tumor and broad ligament. We describe a Sicilian girl with type 2C VHL who showed the apparently de novo mutation R161Q in association with an extra-axial supratentorial frontal meningioma, which can be included as a characteristic sign in VHL.
| Original language | English |
|---|---|
| Title of host publication | Annals of the New York Academy of Sciences |
| Pages | 198-202 |
| Number of pages | 5 |
| Volume | 1073 |
| DOIs | |
| Publication status | Published - Aug 2006 |
Publication series
| Name | Annals of the New York Academy of Sciences |
|---|---|
| Volume | 1073 |
| ISSN (Print) | 00778923 |
| ISSN (Electronic) | 17496632 |
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Keywords
- Genotype-phenotype
- Meningioma
- Mutation detection
- Tumor suppressor gene
- VHL gene
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)
Cite this
Germline mutation of von Hippel-Lindau (VHL) gene 695 G>A (R161Q) in a patient with a peculiar phenotype with type 2C VHL syndrome. / Santarpia, Libero; Lapa, Daniela; Benvenga, Salvatore.
Annals of the New York Academy of Sciences. Vol. 1073 2006. p. 198-202 (Annals of the New York Academy of Sciences; Vol. 1073).Research output: Chapter in Book/Report/Conference proceeding › Conference contribution
}
TY - GEN
T1 - Germline mutation of von Hippel-Lindau (VHL) gene 695 G>A (R161Q) in a patient with a peculiar phenotype with type 2C VHL syndrome
AU - Santarpia, Libero
AU - Lapa, Daniela
AU - Benvenga, Salvatore
PY - 2006/8
Y1 - 2006/8
N2 - Von Hippel-Lindau (VHL) disease is an autosomal dominant familial neoplastic disorder with an estimated birth incidence of approximately 1:36000 live. VHL has intrafamilial variability expression and it is characterized by the predisposition to develop hemangioblastomas of the central nervous system and retina, pheochromocytomas, clear-cell renal carcinoma, adenomas, and carcinomas of the pancreas, paragangliomas, renal and pancreatic cysts, papillary cystadenomas of the epididymis and, rarely, cystadenomas of the endolymphatic sac tumor and broad ligament. We describe a Sicilian girl with type 2C VHL who showed the apparently de novo mutation R161Q in association with an extra-axial supratentorial frontal meningioma, which can be included as a characteristic sign in VHL.
AB - Von Hippel-Lindau (VHL) disease is an autosomal dominant familial neoplastic disorder with an estimated birth incidence of approximately 1:36000 live. VHL has intrafamilial variability expression and it is characterized by the predisposition to develop hemangioblastomas of the central nervous system and retina, pheochromocytomas, clear-cell renal carcinoma, adenomas, and carcinomas of the pancreas, paragangliomas, renal and pancreatic cysts, papillary cystadenomas of the epididymis and, rarely, cystadenomas of the endolymphatic sac tumor and broad ligament. We describe a Sicilian girl with type 2C VHL who showed the apparently de novo mutation R161Q in association with an extra-axial supratentorial frontal meningioma, which can be included as a characteristic sign in VHL.
KW - Genotype-phenotype
KW - Meningioma
KW - Mutation detection
KW - Tumor suppressor gene
KW - VHL gene
UR - http://www.scopus.com/inward/record.url?scp=33845512583&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33845512583&partnerID=8YFLogxK
U2 - 10.1196/annals.1353.021
DO - 10.1196/annals.1353.021
M3 - Conference contribution
C2 - 17102087
AN - SCOPUS:33845512583
SN - 1573315974
SN - 9781573315975
VL - 1073
T3 - Annals of the New York Academy of Sciences
SP - 198
EP - 202
BT - Annals of the New York Academy of Sciences
ER -