This 32-year-old woman had a family history of VHL disease and her medical history was significant for pancreatic cysts and pheochromocytoma. She experienced headache and dizziness and a temporal bone mass consistent with an ELS tumor was found on brain MR imaging (Fig. 2). A preoperative audiogram showed no hearing function and she underwent a left transcochlear approach and resection of the tumor. The pathological diagnosis was consistent with an ELS tumor. She was later found to have a spinal hemangioblastoma (Fig. 2 right) that was resected and included in this study. Results of genetic testing conducted in the patient and two of her sons were consistent with VHL syndrome and are described later. No evidence of tumor recurrence has been found 2 years after her craniotomy.
PatientID: 1
KindredID: 1
Case: F, 32Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Her two sons and her father had the same VHL mutation.
CohortInfo:Three patients with endolymphatic sac tumors were studied.
CasePresentingHPOs: HP:0001737, HP:0002666, HP:0030393, HP:0009713 (pancreatic cysts, pheochromocytoma, endolymphatic sac tumor, spinal hemangioblastoma)
CaseHPOFreeText: She presented with pancreatic cysts and pheochromocytoma at age 32. She experienced headache and dizziness and a temporal bone mass consistent with an ELS tumor was found on brain MR imaging. A preoperative audiogram showed no hearing function and she underwent a left transcochlear approach and resection of the tumor. The pathological diagnosis was consistent with an ELS tumor. She was later found to have a spinal hemangioblastoma that was resected and included in this study.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: c.464-1G>A
LegacyVariant: N/A
CaseProblemVariantFreeText: The paper describes the mutation as "C-to-A transversion at position −1 on the exon 3 splice acceptor sequence in the VHL gene"
ClinVar: 43603 https://www.ncbi.nlm.nih.gov/clinvar/variation/43603/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: splice_site_variant
CivicName: Splice Site (c.464-1G>A)
MultipleGeneVariants: N/A