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  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene
    2
    1. ClingenBaseline 27 Oct 2026
      Sequencing of the VHL gene revealed the presence of the 393C>A (N131K) missense mutation (Fig. 1) [12]

      A case report of a 49Yo woman presenting with a spinal hemangioblastoma was reported. Molecular analysis confirmed the presence of the above mutation, 393C>A (N131K). Upon further workup, retinal hemangioblastoma, renal cysts, and a carotid body paraganglioma were identified. Familial screening showed 3 family members with a clinical diagnosis of VHL, who had all passed away before testing could be conducted. Clinical manifestations in these members included: renal cell carcinoma, retinal hemangioblastoma, and CNS hemangioblastoma.

      ClinVarID:420074 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 27 Oct 2026
      Case reportThe female patient, aged 49, reported pains in her second and third finger of the right hand that she had had for 2 years. Initial diagnosis revealed isthmus carpalis and the patient was operated on without much success—no improvement was noticed.A year later, intensifying root pains of Root C5 and C6 on the right side were the reason for performing an MRI scan of the cervical spine. The findings from the study showed an intramedullary lesion of 1.5 cm in diameter, localized at the height of C5–C6 with accompanying syrinx stretching from C3 to C7. The patient was consulted neurosurgically several times, but refused to submit to a surgical treatment. Gradually, the pains extended to the entire forearm of the upper right limb, and numbness appeared of both lower limbs. She met the clinical diagnostic criteria for VHL disease [11]. Sequencing of the VHL gene revealed the presence of the 393C>A (N131K) missense mutation (Fig. 1) [12]. VHL disease was also diagnosed in her relatives (shown in Fig. 2).

      PatientID: III:2 (case)

      KindredID: 1

      Case: F, 49Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: VHL disease was diagnosed in her relatives - although no genetic testing was directly performed on them prior to death. 2/3 of her siblings and her father were affected. Her father had retinal hemangioblastoma at 30Y, CNS hemangioblastoma at 40Y and died at 41Y. Her older brother had kidney cancer and died at 48Y, and her sister had retinal hemangioblastoma at 13Y and CNS hemangioblastoma at 29Y. The case’s daughter tested negative and their other living sister.

      CasePresentingHPOs: HP:0009711; HP:0000107; HP:0009713; HP:0002668 (retinal capillary hemangioblastoma; renal cysts; spine hemangioblastoma; paraganglioma)

      CaseHPOFreeText: patient at retinal hemangioblastoma at 22Y. At 47Y she reported pains in her second and third finger of the right hand. She developed large carotid body paraganglioma at the common carotid artery bifurcation, (49Y) coexisting with a hemangioblastoma situated intramedullary in region C5/C6 (the right-sided dorsal part of the spinal cord) at 47Y). 1 year after the hemangioblastoma resection, the spinal symptoms receded and the carotid body paraganglioma still was asymptomatic. Motor issues and Babinski syndrome were also observed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N131K (c.393C>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 420074 https://www.ncbi.nlm.nih.gov/clinvar/variation/420074/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: N131K (c.393C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:paraganglioma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:renalcyst AgeOfPresentation:retinalcapillaryhemangioma:22 AgeOfPresentation:paraganglioma:49 AgeOfPresentation:spinalhemangioblastoma:47 ClinVarID:420074 ClinVarID:Yes cDNAposition:393 ProteinPosition:131 AminoAcidChange:ASNtoLYS MutationType:missense_variant;transversion CivicName:N131K(c.393C>A) Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3092932/
  3. journals.lww.com journals.lww.com
    Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression
    1
    1. ClingenBaseline 27 Oct 2026
      Eighteen VHL patients who underwent pancreatectomy for one or several endocrine tumors at Beaujon hospital from 1997 to 2008 were retrieved from the file of VHL patients (Table 1).

      Eighteen VHL patients who underwent pancreatectomy for one or several endocrine tumors at Beaujon hospital from 1997 to 2008 were retrieved from the file of VHL patients. All patients had VHL germline mutations. Age is at the time of surgery. Patients #8 (male) was found with this germline VHL mutation (p.N131K (c.393C>A)) and pancreatic endocrine tumours. The last known age of the patient was 26Y. Other phenotypes and demographics were unknown. ACMG PP4

      ClinVarID:420074 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals.lww.com/ajsp/fulltext/2009/05000/pancreatic_endocrine_microadenomatosis_in_patients.9.aspx