Is the TriNetX Database a Good Tool for Investigation of Real-World Management of Von Hippel-Lindau?

Von Hippel-Lindau (vHL) is a hereditary disease characterized by the development of benign and malignant tumors across multiple organ systems. It is seen in approximately 1 in 36,000 live births. Given that vHL is a rare disease, studies that seek to characterize vHL are often hampered by small sample sizes.

[Stereotactic radiotherapy of spinal hemangioblastoma].

Hemangioblastoma (HAB) is a benign, richly vascularized tumor that accounts for 2-6% of all spinal cord neoplasms and ranks third in the structure of intramedullary space-occupying lesions of the spinal cord. Hemangioblastoma may occur sporadically or, in approximately 30% of cases, as part of the clinical picture of a hereditary disease, von Hippel-Lindau disease. The aim of this study was to evaluate the efficacy and safety of stereotactic irradiation of hemangioblastomas of the spinal localization in patients with sporadic and von Hippel-Lindau-associated hemangioblastomas The results of stereotactic radiotherapy were evaluation of 210 spinal hemangioblastomas in 74 patients.

Intraoperative indocyanine green (ICG) videoangiography in spinal hemangioblastoma surgery - helpful tool or unnecessary?

Background: Hemangioblastomas are highly vascularized tumors that may be associated with extensive architecture of the surrounding pathological vessels. The distinction between feeding arteries and draining veins is usually not obvious during microsurgical en-bloc tumor resection. The aim of this investigation is to provide recommendations in which hemangioblastomas intraoperative indocyanine green (ICG) videoangiography might be beneficial for safe en-bloc tumor resection.

Surveillance in Children and Adolescents with von Hippel-Lindau (VHL)-Related Pheochromocytomas and Paragangliomas: A Survey of MET and Freiburg-VHL Registries in Germany.

Early identification of patients at risk with von Hippel-Lindau (VHL) syndrome-related pheochromocytoma and paraganglioma (PPGL) is crucial to prevent morbidity. We investigated the current surveillance recommendations in VHL-related PPGL in children and adolescents. German Pediatric Oncology and Hematology-Malignant Endocrine Tumor registry (GPOH-MET) and Freiburg-VHL registry (1996-2022).

Spine Stereotactic Radiosurgery Provides Long-Term Local Control and Overall Survival for Benign Intradural Tumors.

Background And Objectives: The role of radiosurgery in the treatment of benign intracranial tumors is well established. However, there are limited long-term follow-up studies on outcomes after stereotactic radiosurgery (SRS) for benign intradural spinal tumors. In this article, we report a large single-institution experience in using SRS to treat patients with benign intradural tumors of the spine.

Spinal cord hemangioblastomas in von Hippel-Lindau disease.

Background: von Hippel-Lindau disease (VHL) is an autosomal dominant familial neoplasia syndrome. The most common manifestation of VHL is central nervous system hemangioblastomas. VHL patients will often develop multiple hemangioblastomas along their craniospinal axis over their lifetime.

Unique properties of clinical manifestation and magnetic resonance imaging for differential diagnosis of optic nerve hemangioblastoma.

Background: To investigate the unique properties of clinical manifestation and radiological imaging for differential diagnosis of optic nerve hemangioblastoma (ONH) from adult optic nerve glioma (ONG) prior to surgical resection.

Methods: ONH and adult ONG patients were recruited from 2012 to 2022.

Results: A total of seven ONH patients (8 eyes) and 23 adult ONG patients (24 eyes) were assessed.

Application of carbonic anhydrase IX in sporadic hemangioblastoma of the central nervous system and hemangioblastoma associated with von Hippel-Lindau disease.

Objective: This research aims to examine the expression of carbonic anhydrase IX (CAIX) protein in hemangioblastoma of the central nervous system and its potential application in pathological diagnosis and differential diagnosis.

Materials And Methods: Immunohistochemistry was used to identify the expression of CAIX and the α-inhibin protein. The sensitivity and specificity of CAIX and α-inhibin for identifying hemangioblastoma of the central nervous system were compared.

Total loss of gene function impairs neuroendocrine cancer cell fitness due to excessive HIF2α activity.

Loss-of-function germline () tumor suppressor mutations cause VHL disease, which predisposes individuals to kidney cancer, hemangioblastomas, and paragangliomas. The risk that a given VHL disease family will manifest some or all these tumor types is profoundly influenced by the allele it carries. For example, almost all VHL disease families that develop paraganglioma have missense mutations.

Clinical characteristics and surgical strategy of sporadic cerebellar hemangioblastomas.

Hemangioblastoma is a rare benign vascular tumor that occurs mostly in the cerebellum. The aim of the present study was to analyze the clinical characteristics of sporadic cerebellar hemangioblastoma and its surgical strategy. A total of 76 cases of sporadic cerebellar hemangioblastoma (42 males and 34 females; age, 46.