Authors: |
Ding, X; Zhang, C; Frerich, J. M.; Germanwala, A; Yang, C.; Lonser, R. R.; Mao, Y.; Zhuang, Z.; Zhang, M |
Article Title: |
De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease |
Abstract: |
Von Hippel-Lindau (VHL) disease is an autosomal dominant multiorgan tumor syndrome caused by a germline mutation in the VHL gene. Characteristic tumors include CNS hemangioblastomas (HBs), endolymphatic sac tumors, renal cell carcinomas, pheochromocytomas, and pancreatic neuroendocrine tumors. Sporadic VHL disease with a de novo germline mutation is rare. The authors describe a case of multiple CNS HBs in a patient with a heterozygous de novo germline mutation at c.239G>T [p.S80I] of VHL. This is the first known case of a sporadic de novo germline mutation of VHL at c.239G>T. Clinicians should continue to consider VHL disease in patients presenting with sporadic CNS HBs, including those without a family history, to confirm or exclude additional VHL-associated visceral lesions. |
Journal Title: |
Journal of neurosurgery
|
Volume: |
121 |
Issue: |
2 |
ISSN: |
1933-0693; 0022-3085 |
Publisher: |
Unknown
|
Journal Place: |
United States |
Date Published: |
2014 |
Start Page: |
384 |
End Page: |
386 |
Language: |
eng |
DOI/URL: |
|
Notes: |
JID: 0253357; EC 6.3.2.19 (Von Hippel-Lindau Tumor Suppressor Protein); OTO: NOTNLM; 2014/03/28 [aheadofprint]; ppublish |