Stereotactic Radiotherapy of VHL-Associated hemangioblastomas: A Family Case Report and Literature Review

Abstract

Von Hippel-Lindau syndrome (VHL) is a rare autosomal-dominant inherited cancer syndrome with different phenotypes caused by variants in the VHL gene.Hemangioblastoma (HAB) is a benign tumor of the central nervous system and may appear as a component of VHL disease.HAB is one of the most common manifestations and a leading cause of morbidity and mortality in patients with BGL, but can also occur as a sporadic form. This tumor often has a cystic component and is multiple in nature. Mainly located subtentorially. MRI is the gold standard for diagnosis; computed tomography and perfusion techniques can also be used to make the correct diagnosis. The definitive treatment for these lesions is surgical resection, followed by SRS if necessary. Stereotactic irradiation is the method of choice for hemangioblastomas, especially with early detection of relatively small lesions, including those with multiple lesions. Radiosurgery is carried out with a high degree of efficiency with low toxicity, which is especially important for patients with minimally severe symptoms and in pediatric patients and also is recommended to patients with limited surgical alternatives (i.e., severe medical comorbidities, surgically unresectable tumors). SRS offered a satisfactory 5-year tumor control of HHB to VHL patients.The article describes a family case of hemangioblastoma, traced over several generations, provides an algorithm for the management of patients with VHL syndrome with recommendations for the required scope of their diagnosis, observation and discussion of approaches to their treatment.Careful collection of family history, genetic and follow up examination carried out systematically and correctly, monitoring of patients with VHL will allow timely establishment of the correct diagnosis and more widespread use of the stereotactic irradiation method.