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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Surgical decision-making affected by clinical and genetic screening of a novel kindred with von Hippel-Lindau disease and pancreatic islet cell tumors
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    1. ClingenBaseline 31 Oct 2026

      PatientID: None

      KindredID: 1

      Case: F, 29Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Her youngest sister had bilateral angiomas, liver lesions, and metastatic islet cell cancer. Her second oldest sister had two hypervascular pancreatic head tumours, a complex left renal cyst, and enlarged bilateral ovarian cysts. Her third oldest sister had a pancreatic head tumour and bilateral renal cysts. The oldest sister did not carry the mutation or have any abnormal presentations. The patient's mother was found to harbor the mutation and had retinal angiomas, bilateral adrenal pheochromocytoma, and pancreatic cysts. The patient's maternal grandmother was suspected to have VHL as she developed progressive blindness at age 32 and was completely blind by age 36. She died at age 68 due to an acute hemorrhage into and around a vascular tumour. The patient's maternal aunt died suddenly at age 51 due to a cerebellar hemangioblastoma. One of the aunt's children died at age 25 due to a cerebellar hemangioblastoma and another had bilateral retinal angiomas and multiple pancreatic cysts. Refer to Figure 1 for pedigree.

      CasePresentingHPOs: HP:0009711, HP:0006880, HP:0030405, HP:0002896 (retinal capillary hemangioma, cerebellar hemangioblastoma, pancreatic endocrine tumour, neoplasm of the liver)

      CaseHPOFreeText: Presented with bilateral retinal angiomas and cerebellar hemangioblastoma at age 29. Three months later presented with abdominal pain which was found to be due to metastatic islet cell cancer. Laparotomy revealed multiple 1 to 2 mm bilobar liver lesions but the primary pancreatic tumour was unresectable because of involvement of the superior mesenteric artery.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.R167Q (c.500G>A)

      LegacyVariant: c.R167Q (c.713G>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL AgeOfPresentation:RetinalCapillaryHemangioma:29 DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:29 AgeOfPresentation:pancreaticendocrinetumor:29 DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:neoplasmoftheliver AgeOfPresentation:NeoplasmOfTheLiver:29 FamilyPedigree Familial ProteinPosition:167 cDNAposition:500 CivicName:R167Q(c.500G>A) AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes Mutation:Germline AssumedRefSeq:AF010238.1 MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9488521/