A novel heterozygous mutation in exon 3 of VHL gene leading to Von Hippel-Lindau disease in a Turkish family

2019 ◽  
Author(s):  
Ozge Tasgin Yildirim ◽  
Ismail Yildiz ◽  
Fatih Horozoglu ◽  
Aysun Gonen ◽  
Cenk Murat Yazici ◽  
...  
Keyword(s):  
Heterozygous Mutation ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Turkish Family ◽  
Von Hippel Lindau Disease

VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel- Lindau disease

Neurology ◽  
1999 ◽  
Vol 53 (1) ◽  
pp. 208-208 ◽  
Author(s):  
N. Kawahara ◽  
H. Kume ◽  
K. Ueki ◽  
K. Mishima ◽  
T. Sasaki ◽  
...  
Keyword(s):  
Gene Inactivation ◽  
Endolymphatic Sac ◽  
Endolymphatic Sac Tumor ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

A Unique Case of Renal Carcinoma with Xp11.2 Translocations/TFE3 Gene Fusions in a 3-Year-old Child, with Coexistent von Hippel-Lindau Gene Mutation

2004 ◽  
Vol 7 (4) ◽  
pp. 403-406 ◽  
Author(s):  
Mana M. Parast ◽  
Grant Eudy ◽  
Kenneth W. Gow ◽  
Mahul Amin ◽  
Bahig Shehata
Keyword(s):  
Gene Mutation ◽  
Renal Carcinoma ◽  
Pediatric Population ◽  
Single Point ◽  
Single Point Mutation ◽  
Transcription Factor Gene ◽  
Unique Case ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Renal cell carcinomas (RCCs) are rare in the pediatric population; when they occur, a significant percentage are associated with specific cytogenetic abnormalities and germline mutations. These include mutations in the von Hippel-Lindau (VHL) gene and translocations involving the TFE3 transcription factor gene on Xp11.2. Here we report a case of a 3-year-old child with a large renal mass. Histologic examination of the tumor showed a predominantly nested growth pattern with some papillary foci. Cytogenetic analysis revealed a karyotype of t(X;1)(p11.2; p34.3), consistent with a TFE3-associated RCC. Interestingly, sequencing of the patient's VHL gene revealed a single point mutation, previously seen in a subgroup of patients with von Hippel-Lindau disease. This is the first reported case, to our knowledge, of t(X;1)-associated RCC in a patient with concurrent VHL gene mutation.

Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families

2008 ◽  
Vol 134 (11) ◽  
pp. 1211-1218 ◽  
Author(s):  
Jin Zhang ◽  
Yiran Huang ◽  
Jiahua Pan ◽  
Dongming Liu ◽  
Lixin Zhou ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Chinese Families ◽  
Mainland Chinese ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease

2020 ◽  
Vol 243 ◽  
pp. 1-6
Author(s):  
Muhammad Faiyaz-Ul-Haque ◽  
Masood Jamil ◽  
Muhammad Aslam ◽  
Halah Abalkhail ◽  
Fouad Al-Dayel ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

scholarly journals 9º Simpósio Médico Internacional de VHL; III Encontro de Famílias com a Síndrome de VHL Data:

2010 ◽  
Vol 56 (3) ◽  
pp. 395-406
Author(s):  
Instituto Nacional de Câncer José de Alencar Gomes da Silva
Keyword(s):  
Renal Cell Carcinoma ◽  
Tumor Suppressor ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Renal Cell Carcinomas ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Number Variation ◽  
Von Hippel Lindau Disease

Resumos escolhidos para publicação. Nessa edição, os títulos foram: Extramitochondrial Fumarate Inhibits Multiple 2-OG Oxygenases in Fumarate Hydratase Deficient Cells; What is the Best Treatment for Renal Lesions in VHL?; Characterization of the VHL-ECM Pathway; Induction of Extreme Metabolic Depression by the Nucleolus; Mutation of SDHB and Inherited RCC Susceptibility; Metabolic Links to Renal Cancer; Radiosurgery for Cerebellar Hemangioblastomas; Neoplastic Diagnosis Timing Profile in von Hippel-Lindau´s Patients in a Personal Series; Regulation of the VHL Tumor Suppressor; Destructive Targeting via VHL Beyond HIF; Folliculin Functional Studies and Mouse Models of Birt-Hogg-Dube’ Syndrome; A Zebrafish Model for VHL; Relief of Intractable Nausea after Resection of Brainstem Hemangioblastoma in Patients with von Hippel-Lindau Disease: a Clinical Series; Somatic Alteration of the VHL Gene in Sporadic Renal-Cell Carcinomas as a Potential Biomarker; VHL Tumor Suppressor Protein Regulates Oncogenic Macroautophagy in Renal Clear Cell Carcinoma (RCC); Identification of Germline Mutations in the VHL Gene of Families with the von Hippel-Lindau Disease; Expression Profile in von Hippel-Lindau Disease Associated and Sporadic Clear-Cell Renal Cell Carcinomas; Proposed Changes to the VHL Handbook; Evaluation of the Somatic Alterations of the VHL Gene in Renal Cell Carcinoma Associated with von Hippel-Lindau Disease (VHL); Copy Number Variation Analysis of a Pancreatic Neuroendocrine Tumor (NET) from a Patient with von Hippel-Lindau (VHL); Molecular Dynamics Study of the Mutant pVHL Phe76del and its Interactions with Components of the pVHL Complex; Genomic Copy Number Variation Analysis in VHL-Associated Renal Cell Carcinomas Suggests Clonality; Management of Brainstem and Spinal cord Hemangioblastomas in Patients with von Hippel-Lindau Disease; The Benefits of Ultrasound in Resection of CNS Hemangioblastomas; Management of Central Nervous System Hemangioblastomas in von Hippel-Lindau Disease; Neuronal Differentiation of Stem cells by Transfer of a VHL Peptide and Regenerative Therapy; Endolymphatic Sac Tumors (ELST) in VHL Patients - Evaluation of Screening Methods in a National Study; Delineating Genotype-Phenotype Correlations Among Brazilian Families with von Hippel-Lindau Disease; Endothelial Fenestrations Associated with VHL Gene Alteration is a Potent Target of Anti-VEGF Therap; Role of Pregnancy on Hemangioblastomas in von Hippel-Lindau Disease: a Retrospective French Study; An Evaluation of the Danish National Clinical Guidelines for Von Hippel-Lindau (VHL); Vitreoretinal Surgery for Severe Retinal Capillary Hemangiomas; Oncololytic Targeting of Renal Cell Carcinoma via Encephalomyocarditis Virus; Emerging Therapeutic Options for VHL Patients: a Tale of three Studies; Altering the Stability of Mutant VHL: Potential Therapeutic Consequences; Tale of the Tail: Clinical and Functional Properties of Novel VHL Mutation (X214L) Consistent with Type 2A Phenotype and Low Risk of Renal Cell Carcinoma; Knife for Intracranial Hemangioblastomas in von Hippel-Lindau Patients. When and How?; VHL in Brazil: Genetics, Biobanking and VHL Family Care; Understanding VHL Disease: Molecular Characterization of a Spanish Series; Case Report: Radiosurgery for Endolymphatic Sac Tumor in a Patient with von Hippel-Lindau Disease; Primary Cilium: a Tumor Suppressor Organelle.

scholarly journals Pathology of the Nervous System in Von Hippel-Lindau Disease

2015 ◽  
Vol 2 (3) ◽  
pp. 114-129 ◽  
Author(s):  
Alexander O. Vortmeyer ◽  
Ahmed K. Alomari
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hypoxia Inducible Factors ◽  
Metastatic Renal Cancer ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Vhl Disease ◽  
Common Manifestation

Von Hippel-Lindau (VHL) disease is a tumor syndrome that frequently involves the central nervous system (CNS). It is caused by germline mutation of the VHL gene. Subsequent VHL inactivation in selected cells is followed by numerous well-characterized molecular consequences, in particular, activation and stabilization of hypoxia-inducible factors HIF1 and HIF2. The link between VHL gene inactivation and tumorigenesis remains poorly understood. Hemangioblastomas are the most common manifestation in the CNS; however, CNS invasion by VHL disease-associated endolymphatic sac tumors or metastatic renal cancer also occur, and their differentiation from primary hemangioblastoma may be challenging. Finally, in this review, we present recent morphologic insights on the developmental concept of VHL tumorigenesis which is best explained by pathologic persistence of temporary embryonic progenitor cells. 

VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease

Neurology ◽  
2000 ◽  
Vol 55 (3) ◽  
pp. 460-460 ◽  
Author(s):  
A. O. Vortmeyer ◽  
D. Choo ◽  
S. Pack ◽  
E. Oldfield ◽  
Z. Zhuang ◽  
...  
Keyword(s):  
Gene Inactivation ◽  
Endolymphatic Sac ◽  
Endolymphatic Sac Tumor ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease
Sign in / Sign up

Export Citation Format

Share Document