2 Matching Annotations
  1. Last 7 days
  2. thejns-org.proxy1.lib.uwo.ca thejns-org.proxy1.lib.uwo.ca
    Endolymphatic sac tumors in patients with and without von Hippel—Lindau disease: the role of genetic mutation, von Hippel—Lindau protein, and hypoxia inducible factor-1α expression
    1
    1. ClingenBaseline 01 Nov 2026
      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

      InheritancePattern:AutosomalDominant Mutation:Germline Familial DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:pheochromocytoma DiseaseEntity:endolymphaticsactumor DiseaseEntity:spinalhemangioblastoma AgeofPresentation:pancreaticcysts:32 AgeOfPresentation:pheochromocytoma:32 AgeOfPresentation:endolymphaticsactumor:32 cDNAposition:464 MutationType:splice_site_variant ClinVarID:43603 ClinVarID:Yes AssumedRefSeq:NM_000551.3 ProteinPosition:N/A AminoAcidChange:N/A CivicName:SpliceSite(c.464-1G>A) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    thejns-org.proxy1.lib.uwo.ca/view/journals/j-neurosurg/100/3/article-p488.xml
  3. Oct 2026
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review
    1
    1. ClingenBaseline 29 Oct 2026
      Herein, we reported a case of ELST with VHL gene analysis who presented with a family history of VHL disease. The radiologic, histologic, and immunohistochemical features of the tumor were typical of ELST.

      PatientID: 1 (case)

      KindredID: 1

      Case: F, 33Y0M, Ethnicity Unknown

      DiseaseAssertion: endolymphatic sac tumor

      FamilyInfo: Her mother and elder sister had history of resection of cerebellar hemangioblastomas, although no genetic testing was done for them.

      CasePresentingHPOs: HP:0030393 (endolymphatic sac tumor)

      CaseHPOFreeText: Woman had progressive hearing disturbance, vertigo, and headache since 32Y. MRI revealed a 4.5 × 3.8 × 3.5-cm mass was detected in the right cerebellopontine angle, destroying the cerebellum. CT with a bone window mode demonstrated extensive destruction of the petrous bone and middle ear structures (endolymphatic sac tumor). The patient underwent craniotomy for a complete removal of the tumor. To date of publication, the patient remains well, with no evidence of recurrent tumor.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+1G>A

      LegacyVariant: 553 + 1G→A, designated as IVS1 + 1G→A mutation

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223190 https://www.ncbi.nlm.nih.gov/clinvar/variation/223190/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: No LOH was found in this sample

      MutationType: splice_site_variant

      CivicName: Splice site (c.340+1G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:endolymphaticsactumor Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:340 CivicName:SpliceSite(c.340+1G>A) MutationType:splice_site_variant ClinVarID:223190 ClinVarID:Yes Familial AgeOfPresentation:endolymphaticsactumor:32 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/20850701/