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Belzutifan for Renal Cell Carcinoma in von Hippel–Lindau Disease

Mar 14, 2017 · Von Hippel-Lindau (VHL) disease is an inherited syndrome with autosomal-dominant transmission, characterized by central nervous system and retinal hemangioblastomas, visceral cysts and tumors. ...read more

 

Single-Arm Nonrandomized Phase II study of Pazopanib in

In this prospective, non-randomised, single-centre, single-arm, open-label, phase 2 study, we assessed patients with genetically confirmed von Hippel-Lindau disease or clinical features and family history consistent with von Hippel-Lindau disease who were having surveillance for at least one measurable von Hippel-Lindau disease-related lesion. ...read more

 

Single case of renal cell carcinoma and endocrine pancreatic

In this phase 2, open-label, single-group trial, we investigated the efficacy and safety of the HIF-2α inhibitor belzutifan (MK-6482, previously called PT2977), administered orally at a dose of ...read more

 

von Hippel-Lindau Disease: an Update | SpringerLink

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Pazopanib in patients with von Hippel-Lindau disease: a single

Jan 1, 2005 · Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic disease in which various neoplastic lesions occur in multiple organs. Reported here is a case of VHL disease with concurrent renal cell carcinoma and endocrine pancreatic cancer. The patient was a 43-year old woman. On this occasion, the patient had sought treatment from her ...read more

 

Pazopanib in patients with von Hippel-Lindau disease: a single

Nov 11, 2016 · Von Hippel-Lindau (VHL) disease is a serious, autosomal dominant, neoplastic syndrome that increases susceptibility to a variety of benign and malignant neoplasms. Clinical manifestations of VHL include central nervous system (CNS) and retinal hemangioblastomas, endolymphatic sac tumors, clear-cell RCC, phechromocytomas and ...read more

 

Variant spectrum of von Hippel–Lindau disease and its genomic

No approved systemic therapy exists for von Hippel-Lindau disease, an autosomal dominant disorder with pleiotropic organ manifestations, including clear cell renal cell carcinomas, retinal, cerebellar and spinal hemangioblastomas, pheochromocytomas, pancreatic serous cystadenomas, and pancreatic neuroendocrine tumors. ...read more

 

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Nov 9, 2017 · Von Hippel–Lindau (VHL) syndrome is a familial multisystem syndrome associated with germline mutation of the VHL tumour suppressor gene which spans 10 kb at chromosome 3p25. It occurs in approximately one in 36,000 live births [].The median age of first presentation is around 22–23.5 years [2, 3].The most common lesions are in the ...read more

 

Sunitinib for the treatment of benign and malignant neoplasms - PubMed

Jun 27, 2022 · Abstract Mitochondria are the main consumers of oxygen within the cell. How mitochondria sense oxygen levels remains unknown. Here we show an oxygen-sensitive regulation of TFAM, an activator of ...read more

 

Impaired oxygen-sensitive regulation of mitochondrial - Nature

Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. HIF controls several genes involved in cell division, the formation of new blood vessels, and the production of red blood cells. These genotype—phenotype correlations suggest that missense mutations of pVHL lead to a '' protein. ...read more

 

Sunitinib for the treatment of benign and malignant - Oncotarget

Nov 28, 2019 · von Hippel-Lindau (VHL) disease is an autosomal dominant multisystem cancer predisposition disorder caused by germline mutations in the VHL tumour suppressor gene [ 1, 2 ]. Up to 20% of cases are due to de novo pathogenic variants and therefore have no family history [ 3 ]. ...read more

 

Single lindau - Pastelink.net

Sep 17, 2018 · Pazopanib in patients with von Hippel-Lindau disease: a single-arm, single-centre, phase 2 trial. - Abstract - Europe PMC Europe PMC is an archive of life sciences journal literature. Europe PMC Pazopanib in patients with von Hippel-Lindau disease: a single-arm, single-centre, phase 2 trial. 1 Europe PMCrequires Javascript to function ...read more

 

Single-stage laparoscopic adrenalectomy for pheochromocytoma

Oct 1, 2018 · Methods. In this non-randomised, single-centre, open-label, phase 2 trial, adult patients with clinical manifestations of von Hippel-Lindau disease were recruited from the University of Texas MD Anderson Cancer Center (Houston, TX, USA) and were treated with pazopanib (800 mg orally daily) for 24 weeks, with an option to continue treatment if ...read more

 

Single-stage laparoscopic adrenalectomy for - Europe PMC

Sep 12, 2014 · Two single nucleotide polymorphisms, rs779805 and rs1642742, located in the promoter and 3′ untranslated regions of the von Hippel-Lindau gene are informative and implicated in the occurrence of renal cell carcinoma worldwide. The aim of this study is to clarify whether these polymorphisms are associated with renal cell carcinoma in Taiwanese. ...read more

 

Insel-Hotel-Lindau, Lindau – Updated 2023 Prices - Booking.com

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Genotype phenotype correlation in Asian Indian von Hippel–Lindau

Dec 20, 2016 · Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes affected individuals to the development of multiple benign and malignant tumors. Sunitinib for the treatment of benign and malignant neoplasms from von Hippel-Lindau disease: A single-arm, prospective phase II clinical study from ...read more

 

Two single nucleotide polymorphisms in the von Hippel-Lindau

Jun 16, 2022 · Von Hippel-Lindau (VHL) disease is an inherited, autosomal dominant syndrome manifested by a variety of benign and malignant tumors. A pathogenic variant in the VHL gene diagnostic for VHL disease is present in approximately 1 in 36,000 individuals [ 1-3 ]. The initial manifestations of disease can occur in childhood, adolescence, or ...read more

 

Clinical features, diagnosis, and management of von Hippel-Lindau

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Jun 6, 2017 · The Von Hippel–Lindau disease is an autosomal dominant disorder that implies a genetic alteration consisting in the loss of the tumor suppressor function of the VHL gene [ 4, 5] located in chromosome 3 (3p25.3). The protein encoded by this gene participates in the oxygen-sensing system. ...read more

 

Pazopanib in patients with von Hippel-Lindau disease: a single

Mar 11, 2023 · Abstract. Von Hippel–Lindau (VHL) disease is an autosomal dominant, inherited syndrome with variants in the VHL gene, causing predisposition to multi-organ neoplasms with vessel abnormality. Germline variants in VHL can be detected in 80–90% of patients clinically diagnosed with VHL disease. Here, we summarize the results of genetic ...read more

 

Von Hippel–Lindau disease: a single gene, several hereditary tumors

Apr 6, 2017 · Single-stage laparoscopic adrenalectomy for pheochromocytoma and enucleation of a pancreatic neuroendocrine tumor in Von Hippel-Lindau disease: A case report. - Abstract - Europe PMC Europe PMC is an ...read more