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Department of Medicine IV – Nephrology and Primary Care, University of Freiburg, Germany
https://orcid.org/0000-0001-5018-9305Department of Pediatrics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany
Department of Pediatrics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany
https://orcid.org/0000-0002-1732-1869Department of Medicine IV – Nephrology and Primary Care, University of Freiburg, Germany
https://orcid.org/0009-0005-0978-2859Department of Medicine IV – Nephrology and Primary Care, University of Freiburg, Germany
https://orcid.org/0000-0002-6455-5641Department of Medicine IV – Nephrology and Primary Care, University of Freiburg, Germany
https://orcid.org/0000-0001-5893-4293Department of Pediatrics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany; Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany
https://orcid.org/0000-0003-4577-0503Department of Medicine IV – Nephrology and Primary Care, University of Freiburg, Germany
VHL surveillance in children with PPGLs
AbstractEarly 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). In all, 75 patients (aged 0–18 years) with VHL syndrome were analyzed and 52 were in the Freiburg screening/surveillance program (median follow-up: 11.5 ± 0.94 years), including annual hormone level measurements, eye examination (starting at the age 6 years), and MRI of the abdomen and central nervous system (CNS) (starting at the age of 12 years). Retrospective analysis of clinical outcomes and descriptive statistics was performed. Of the 75 patients, 60 had a previous clinical diagnosis of PPGL with subsequent genetic testing, and 63% had a positive family history. In spite of having positive family history, large variations of timings between genetic and clinical diagnosis (range: -9 to +40 years) were observed. The mean age of first PPGL was 12.4 ± 0.41 years (range: 4–18 years). Recurrence of PPGL was common (46%; range: 2–7 per patient), and that of other tumors occurred: hemangioblastomas (73%), retinal angiomas (58%), renal cell carcinomas (21%), and pancreatic neuroendocrine tumors (12%). VHL-related PPGL appeared by the age of 12 and recurrences were observed frequently. Hemangioblastomas and retinal angiomas were common. In spite of a positive family history, VHL diagnoses were delayed. Because of high tumor proportions of affected families with children, it needs an optimization of the surveillance framework to enhance compliance and minimize anxiety and worse disease outcomes.
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