scholarly journals Identification of a VHL gene mutation in a Chinese family with Von Hippel‑Lindau syndrome

2018 ◽  
Author(s):  
Zhengwen He ◽  
Lu Xia ◽  
Zhiyong Deng ◽  
Aojie Lian ◽  
Zhengmao Hu ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Chinese Family ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

scholarly journals Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype–phenotype correlation and gene therapy perspective

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Dali Tong ◽  
Yao Zhang ◽  
Jun Jiang ◽  
Gang Bi
Keyword(s):  
Gene Therapy ◽  
Gene Mutation ◽  
Suppressor Gene ◽  
Pancreatic Cysts ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Genetic Examination ◽  
Examination Methods ◽  
Vhl Disease ◽  
Von Hippel Lindau Syndrome

Abstract Background Classical von Hippel Lindau (VHL) disease/syndrome includes CNS hemangioblastoma, renal or pancreatic cysts, pheochromocytoma, renal carcinoma and exodermic cystadenoma. The syndrome is caused by mutation of VHL tumor suppressor gene. The most prevalent mutations are present in VHL syndrome. To date, > 500 mutations of gene related to the progression of VHL syndrome have been reported. VHL gene mutation presented in single lung or pancreatic tumor has been reported occasionally, but there is no report of both. Methods In this paper, we used CT scan, pathological and genetic examination methods to diagnose a rare atypical VHL syndrome. Results We reported a rare case of atypical VHL syndrome with authenticated VHL mutation at p.Arg167Gln, that was associated with not only bilateral pheochromocytoma but also lung carcinoid and neuroendocrine tumor of pancreas. Based on literature reviews, the patient was recommended to be further subjected to octreotide-based radionuclide therapy. Conclusions Combined with gene detection and clinical diagnosis, we found the inherent relationship between VHL genotype and phenotype, and constructed the standard diagnosis and treatment process of disease with rare VHL mutation from the perspective of gene therapy.

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.

Von Hippel-Lindau gene mutation status is associated with a dichotomous response in primary and metastatic tumors in patients receiving bevacizumab and erlotinib for metastatic renal cell carcinoma

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 15522-15522
Author(s):  
D. Tsavachidou ◽  
N. M. Tannir ◽  
C. G. Wood ◽  
P. Corn ◽  
K. Do ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Gene Mutation ◽  
Metastatic Disease ◽  
Primary Tumor ◽  
Renal Cell ◽  
Response To Therapy ◽  
Gene Inactivation ◽  
Vhl Gene ◽  
Von Hippel Lindau

15522 Background: A single arm phase II study is underway evaluating the safety and clinical benefit of presurgical bevacizumab and erlotinib in the management of patients with untreated conventional renal cell carcinoma (RCC). It is not known how the presence or absence of von Hippel Lindau (VHL) mutations affect the response to therapy in the primary or metastatic site, and whether VHL mutational status is predictive for either. Methods: Patients enrolled had conventional RCC, measurable metastatic disease, a primary tumor in place, no prior systemic therapy, a PS of 0 or 1 and no brain metastases. A total of 35 patients were enrolled as of January 8, 2007. Patients were treated with bevacizumab for 4 cycles and erlotinib for 8 weeks, and underwent cytoreductive nephrectomy at week 10 (4 weeks after the last dose of bevacizumab). A VHL gene mutation and methylation analysis was completed on nephrectomy specimens from the first 18 evaluable patients. Patients were grouped according to the presence or absence of functional VHL gene inactivation (mutation and/or methylation). Two-sample T-test and Fisher’s exact test were performed. Results: Ten patients (55%) demonstrated either VHL mutation or methylation ( table 1 ). Patients with no VHL gene inactivation demonstrated more robust primary tumor shrinkage, but did not demonstrate partial responses (PRs). Table 1 . Conclusions: These findings, although preliminary, suggest a dichotomous response in the primary and metastatic disease sites according to VHL functional status. Ongoing evaluation of new treatment strategies using antivascular/targeted agents in RCC may benefit from molecular stratification. [Table: see text] No significant financial relationships to disclose.

scholarly journals p.Arg82Leu von Hippel-Lindau (VHL) Gene Mutation among Three Members of a Family with Familial Bilateral Pheochromocytoma in India: Molecular Analysis and In Silico Characterization

PLoS ONE ◽  
2013 ◽  
Vol 8 (4) ◽  
pp. e61908 ◽  
Author(s):  
Anulekha Mary John ◽  
George Priya Doss C ◽  
Andrew Ebenazer ◽  
Mandalam Subramaniam Seshadri ◽  
Aravindan Nair ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Molecular Analysis ◽  
In Silico ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Bilateral Pheochromocytoma ◽  
In Silico Characterization

scholarly journals A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Xing Wu ◽  
Lanlan Chen ◽  
Yixin Zhang ◽  
Hainan Xie ◽  
Meirong Xue ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

scholarly journals Identification of a novel duplication mutation in the VHL gene in a large Chinese family with Von Hippel-Lindau (VHL) syndrome

2014 ◽  
Vol 13 (4) ◽  
pp. 10177-10183
Author(s):  
L.H. Cao ◽  
B.H. Kuang ◽  
C. Chen ◽  
C. Hu ◽  
Z. Sun ◽  
...  
Keyword(s):  
Chinese Family ◽  
Vhl Gene ◽  
Von Hippel Lindau

scholarly journals A Nonsense Mutation in VHL Gene Causing Von Hippel-lindau Syndrome in a Large Chinese Family

2020 ◽  
Author(s):  
Xinghuan Ding ◽  
Tingyu Liang ◽  
Ben Li ◽  
Bo Liang ◽  
Peiliang Li ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Familial Aggregation ◽  
Chinese Family ◽  
Neoplastic Disease ◽  
Reading Frame ◽  
Von Hippel Lindau ◽  
Bioinformatic Tools ◽  
Cystic Tumors ◽  
Vhl Disease ◽  
Von Hippel Lindau Syndrome

Abstract BackgroundVon Hippel-Lindau (VHL) syndrome is a multi-organ neoplastic disease characterized by highly vascular and cystic tumors in central nervous system (CNS), retina and visceral lesions, which is mainly caused by germline mutations in the VHL gene. MethodsHere, a large consanguineous four-generation family with variant phenotypes of VHL disease was recruited and molecular genetics tested via Sanger sequencing. ResultGenetic investigation detected a c.351G>A nonsense mutation in the VHL gene, that altered the reading frame downstream and created a premature TGA stop signal, resulting in severely truncated pVHL (p.Trp117Ter). This mutation is absent from public databases, and the functional prediction bioinformatic tools demonstrated that the residue is conserved and the variant is highly likely to be deleterious. ConclutionThe c.315G>A nonsense mutation in VHL gene is the causal mutation of this kindred that may lead to clear familial aggregation of VHL disease because of the dysfunction of truncated pVHL.

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