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Hemangioblastoma and mosaic von Hippel Lindau disease: rare presentation and review of the literature

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Abstract

Hemangioblastomas are benign vascular tumors that can occur throughout the central nervous system (CNS) sporadically or in association with von Hippel-Lindau (VHL) disease. We present a case of an 11-year-old girl with a hemangioblastoma that tested negative for germline mutation of VHL disease at the time of diagnosis. Our patient went on to have multiple recurrences and further areas of concern for disease within the CNS. Repeat VHL testing was pursued many years later and remained negative for germline mutations. However, next-generation sequencing (NGS) testing on prior tumor tissue returned positive for VHL somatic mutations. The diagnosis of VHL mosaicism has important implications on management and risk of recurrence of hemangioblastoma, along with the need for close follow-up with surveillance imaging.

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Authors and Affiliations

  1. Department of Pediatrics, School of Medicine & Public Health, University of Wisconsin, 600 Highland Ave, Madison, WI, 53792, USA

    Abbie Whitman, Sudarshawn Damodharan & Diane Puccetti

  2. Division of Pediatric Hematology, Oncology, and Bone Marrow Transplant, School of Medicine & Public Health, University of Wisconsin, Madison, WI, USA

    Sudarshawn Damodharan & Diane Puccetti

  3. Department of Neurology, School of Medicine & Public Health, University of Wisconsin, Madison, WI, USA

    Ankush Bhatia

  4. Department of Neurosurgery, School of Medicine & Public Health, University of Wisconsin, Madison, WI, USA

    Bermans Iskandar

Authors
  1. Abbie Whitman
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  2. Sudarshawn Damodharan
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  3. Ankush Bhatia
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  4. Diane Puccetti
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  5. Bermans Iskandar
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All authors contributed equally to the writing of the manuscript.

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Correspondence to Sudarshawn Damodharan.

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Whitman, A., Damodharan, S., Bhatia, A. et al. Hemangioblastoma and mosaic von Hippel Lindau disease: rare presentation and review of the literature. Childs Nerv Syst 39, 1361–1363 (2023). https://doi.org/10.1007/s00381-023-05859-7

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  • DOI: https://doi.org/10.1007/s00381-023-05859-7

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