Genetic Study in One Individual with Brainstem Hemangioblastoma, Multiple Meningiomas and a Pituitary Space-Occupying Lesion Revealing Partial Deletion in VHL Gene

The concurrence of different types of brain tumors is extremely rare. We present a 29-yearold women with brainstem hemangioblastoma, posterior fossa meningiomas and a pituitary spaceoccupying lesion causing hyperprolactinemia.Despite multiple primary intracranial tumors,through systemic work-up, no other manifestation related to von Hippel-Lindau(VHL) disease was found. Complete resection of the brainstem hemangioblastoma and posterior fossa meningiomas was achieved in one single operation via a sub-occipital posterior combined with retrosigmoid approach. The patient was discharged without obvious postoperative complications. Gene copy number analysis based on quantitative PCR revealed partial deletion of Exon 1 in VHL gene in the peripheral blood, brainstem hemangioblastoma and meningiomas. The germline and somatic abnormality in VHL gene might be causally related to tumorigenesis in tumors other than hemangioblastoma,although the exact mechanism is unclear. A close follow-up is significant for such a patient with a de-novo deletion of VHL gene.