Introduction: VHL is a genetic condition predisposing to the development of multiple and successive tumors, mainly nervous system and retinal hemangioblastomas, renal clear cell cancer, endolymphatic sac tumors (ELST), pancreatic neuroendocrine tumors and pheochromocytomas/paragangliomas. Usually diagnosed too late, they present unusually soon in relation to sporadic lesions. Expert committees guidelines for periodic clinical and image screening for these patients have been developed.
Methods: We analyze incidence and presentation of VHL characteristic tumors, especially the age of initial diagnosis of each tumor in order to verify the indication of early screening studies in the pediatric s population.In the past 5 years, at our Familial Neuro-Oncology Program 100 VHL patients were screened following the International VHL Alliance schedule. Patient´s age at every tumor´s diagnosis was recorded and analyzed, specifically in the pediatric age (< 18 y).
Results: Ninety-four patients were diagnosed of at least a characteristic tumor; 6 patients with VHL gene mutation have not yet developed tumors. Twenty three patients were diagnosed of their first neoplasia at pediatric age (8-17y, 25%): retinal hemangioblastoma (13 cases, ages 8-17), cerebellar hemangioblastoma (7 cases, ages 11-17), brainstem hemangioblastoma (5 cases, ages 8-12), spinal cord hemangioblastoma (5 cases, ages 10-17), pheochromocytoma (1 case, age 11) and ELST (1 case, age 17). Eigthteen (75%) needed treatment at pediatric age.
Conclusions: VHL neoplastic manifestations begin very early, in younger patients than sporadic presentations for those tumors, and earlier than expected in current screening schedules for these patients. In our experience, some patients have been diagnosed and required treatment before 15, the usual advised age for initial nervous system screening. In our opinion, besides ophtalmological, audiological and metanephrin screening, screening protocols for nervous system treatable tumors in VHL patients and those at risk should include periodic clinical and image studies from age 8.
Patient Care: Allowing promp treatment or follow-up of early diagnosed nervous system tumors in VHL
Learning Objectives: Understanding the importance of early screening for Nervous System tumors in VHL at risk pediatric population