2 Matching Annotations
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  2. link-springer-com.proxy1.lib.uwo.ca link-springer-com.proxy1.lib.uwo.ca
    Pheochromocytoma in von hippel-lindau disease: Distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2
    1
    1. ClingenBaseline 11 Nov 2026

      PatientID: 2

      KindredID: 2

      Case: F, 52Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: It is stated that the eight VHL patients were selected from the group of familial VHL patients. Assuming there is family history.

      CohortInfo: Eight patients with VHL disease with pheochromocytoma, eight patients with MEN2 and pheochromocytoma, and 10 sporadic patients.

      CasePresentingHPOs: HP:0006748, HP:0010797, HP:0005584, HP:0030405 (adrenal pheochromocytoma, hemangioblastoma, renal cell carcinoma, pancreatic endocrine tumour)

      CaseHPOFreeText: The patient had a bilateral adrenal pheochromocytoma (without metastases) at age 34.

      CaseNotHPOs: HP:0008221 (Adrenal hyperplasia)

      CaseNotHPOFreeText: The patient did not have adrenomedullary hyperplasia.

      CasePreviousTesting: N/A

      PreviouslyPublished: Suspected to be, but not mentioned in paper. Paper says, the eight VHL patients were selected from the group of familial VHL patients withknown VHL germline mutations followed on a clinical protocol at the Urologic Oncology Branch, National Cancer Institute, National Institutes of Health (NIH).

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.N78S (c.446A>G)

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:VHL Familial MutationType:missense_variant;transition CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:34 DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticendocrinetumor inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link-springer-com.proxy1.lib.uwo.ca/article/10.1385/EP:13:1:17
  3. Oct 2026
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2
    1
    1. ClingenBaseline 25 Oct 2026
      In 1994, a 34-yr-old woman without personal and familial history for VHL was referred to the hospital because of persistent pharyngeal discomfort. MRI demonstrated a 4-cm tumor in the parapharyngeal space suggestive of a schwannoma or a carotid paraganglioma. The tumor was removed, and histology revealed a paraganglioma. Postoperatively, she had Horner’s syndrome and a transitory hypoglossal paresis. At age 46, bilateral adrenal pheochromocytoma and a paraaortic paraganglioma were removed. Later, her niece was diagnosed with a pheochromocytoma, and her brother suffered from pheochromocytoma, renal cell carcinoma, and retinal hemangioblastomas. The proband’s mother was then found to have pheochromocytoma. Molecular analysis identified the VHL mutation p.Tyr98His.

      PatientID: 10

      KindredID: 10

      Case: F, 46Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient's niece was diagnosed with a pheochromocytoma, her brother suffered from pheochromocytoma, renal cell carcinoma, and retinal hemangioblastomas, and her mother was found to have pheochromocytoma.

      CohortInfo: An international consortium registered patients with head and neck paragangliomas with VHL or RET gene mutations.

      CasePresentingHPOs: HP:0002864, HP:0002277, HP:0006748 (Paraganglioma of head and neck, Horner syndrome, adrenal pheochromocytoma)

      CaseHPOFreeText: At age 34 the patient was found to have a 4-cm tumor in the parapharyngeal space. It was histologically confirmed to be a paraganglioma. Postoperatively, she had Horner’s syndrome and a transitory hypoglossal paresis. At age 46, bilateral adrenal pheochromocytoma and a paraaortic paraganglioma were removed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: N/A

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:VHL Familial DiseaseEntity:Paragangliomaofheadandneck DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:Hornersyndrome AgeOfPresentation:Paragangliomaofheadandneck:34 AgeOfPresentation:Paragangliomaofheadandneck:46 AgeOfPresentation:adrenalpheochromocytoma:46 PreviousTesting:RET ProteinPosition:98 CivicName:Y98H(c.292T>C) cDNAposition:292 AminoAcidChange:TYRtoHIS ClinVarID:2223 ClinVarID:Yes MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2690424/