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  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease: Case report
    1
    1. ClingenBaseline 14 Nov 2026
      A 23-year-old woman presented with a 3-month history of severe neck pain, acroanesthesia, and blurred vision, as well as a 1-month history of frequent headaches associated with vomiting. Brain and cervical MRI with contrast revealed 4 enhancing lesions in the cerebellum and cervical spinal cord (Fig. 1A–C). No detectable tumors were found in other organs on CT or MRI of the viscera.Open in a separate windowFig. 1Contrast-enhanced T1-weighted MR images (A–C) of the brain revealing enhancing lesions in the cerebellum and ventral spinal cord at C-2. Photomicrograph (D) demonstrating characteristic HB phenotype with lipid-laden stromal cells (arrows) distributed within a dense capillary network. H & E, original magnification ×20.Operation and Postoperative CourseSymptomatic cerebellar and C-2 tumors were resected. Pathological diagnosis confirmed both lesions as HB. Hematoxylin and eosin staining of tumor revealed characteristic HB phenotype, including a mixture of diffuse small spindle cells and clear cytoplasmic lipid-laden stromal cells within an extensive capillary network (Fig. 1D). The patient’s clinical signs and symptoms had resolved by the 7-month follow-up.

      PatientID: 1

      KindredID: 1

      Case: F, 23Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history of VHL disease. Brother, parents and son tested negative for the VHL variant found in the proband and had no clinical manifestations of the disease.

      CasePresentingHPOs: HP:0006880; HP:0009713; HP:0033748; HP:0000622; HP:0002315; HP:0002013 (Cerebellar hemangioblastoma, Spinal hemangioblastoma, Hypoesthesia, Blurred vision, Headache, Vomiting)

      CaseHPOFreeText: Presented with a 3-month history of severe neck pain, acroanesthesia, and blurred vision, as well as a 1-month history of frequent headaches associated with vomiting. Brain and cervical MRI with contrast revealed 4 enhancing lesions in the cerebellum and cervical spinal cord. No detectable tumors were found in other organs on CT or MRI of the viscera. Symptomatic cerebellar and C-2 tumors were resected. Pathological diagnosis confirmed both lesions as HB. The patient’s clinical signs and symptoms had resolved by the 7-month follow-up.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: No detectable tumors were found in other organs on CT or MRI of the viscera.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S80I (c.239G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625229, https://www.ncbi.nlm.nih.gov/clinvar/variation/625229/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Heterozygous mutation.

      MutationType: missense_variant;transversion

      CivicName: S80I (c.239G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant InheritancePattern:DeNovoAssertion DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:hypoesthesia DiseaseEntity:blurredvision DiseaseEntity:headache DiseaseEntity:vomiting AgeOfPresentation:cerebellarhemangioblastoma:23 AgeOfPresentation:spinalhemangioblastoma:23 AgeOfPresentation:hypoesthesia:23 AgeOfPresentation:blurredvision:23 AgeOfPresentation:headache:23 AgeOfPresentation:vomiting:23 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:239 ProteinPosition:81 AminoAcidChange:SERtoILE ClinVarID:625229 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:S80I(c.239G>T) NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4749034/
  3. Oct 2026
  4. onlinelibrary-wiley-com.myaccess.library.utoronto.ca onlinelibrary-wiley-com.myaccess.library.utoronto.ca
    The von Hippel–Lindau (VHL) germline mutation V84L manifests as early‐onset bilateral pheochromocytoma
    1
    1. ClingenBaseline 30 Oct 2026
      The propositus underwent bilateral adrenalectomy for bilateral pheochromocytoma at age 23 years. Thereafter she remained well until age 54 years when a small vascular lesion, possibly a spinal hemangioblastoma, was identified by a screening MRI. No other central nervous system abnormalities were detected and her ophthalmologic examination was normal. An abdominal ultrasound scan demonstrated a 2.8-cm cyst in the left kidney. A year later she complained of right leg weakness, and slight weakness was confirmed by physical examination. A repeat MRI scan of the spine demonstrated a tiny, avidly enhancing nodule on the dorsal surface of the spinal cord at C3 with a diffuse area of high signal within the cord at that level, similar in appearance to one year prior

      PatientID: None

      KindredID: Family C

      Case: M, 54Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: There was no family history of VHL disease or familial pheochromocytoma. Her parents (mother age 85, father age 79) were asymptomatic and were not available for DNA testing. A 58-year-old maternal half-brother was tested and did not carry the mutation.

      CasePresentingHPOs: HP:0006748, HP:0000107, HP:0009713 (adrenal pheochromocytoma, renal cyst, spinal hemangioblastoma)

      CaseHPOFreeText: The patient had bilateral pheochromocytoma. A small vascular lesion was identified by a screening MRI, which that authors of the papers assumed could possibly a spinal hemangioblastoma,

      CaseNotHPOs: None

      CaseNotHPOFreeText: No other central nervous system abnormalities were detected and her ophthalmologic examination was normal.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L (c.250G>T)

      LegacyVariant: p.V84L (c.463G>T)

      ClinVar: 2236 https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: CA020170 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.250G%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:spinalhemangioblastoma DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:renalcyst AgeOfpresentation:adrenalpheochromocytoma:23 AgeOfpresentation:spinalhemangioblastoma:54 AgeOfpresentation:renalcyst:54 Mutation:Germline cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:2236 MutationType:missense_variant;transversion CivicName:V84L(c.463G>T) FamilyPedigree AssumedRefSeq:NM_000551.3 ClinVarID:Yes NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.myaccess.library.utoronto.ca/doi/full/10.1002/ajmg.a.31116