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    Extraneuraxial hemangioblastoma: A clinicopathologic study of 10 cases with molecular analysis of the VHL gene
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    1. ClingenBaseline 25 Oct 2026
      Case 3 (intradural tumor of T7 spinal nerve roots), which was first thought to be sporadic (non-familial) in 2001, was then re-classified as “HB-only VHLD” (form fruste of VHLD) after the patient’s sister, aged 53, was diagnosed with cerebellar HB (in the sister a germline point mutation and 2 somatic point mutations were found in the DNA of the cerebellar HB, and the case was included as case HB-25 in another study [28]). To the best of our knowledge, this is the first case of a patient with “HB-only VHLD” having clinical expression outside CNS.

      PatientID: N/A

      KindredID: 3

      Case: F, 53Y0M, Italian

      DiseaseAssertion: VHL

      FamilyInfo: Sister was thought to be sporadic (non familial) in 2001 with a spinal T7 tumor - genetic testing in this paper describes her (the sister, case 3) without any mutations.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient had a single cerebellar hemangioblastoma that was diagnosed at age 53. She had a germline point and 2 somatic point mutations found in the DNA of her CHB. These mutations are discussed further in PMID: 24335534

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 24335534 (pt. HGB-25)

      SupplementalData: Supplemental Digital Content 1. Primer Sequences for VHL gene amplification, LOH and methylation analysis.

      Variant: p.D126Rfs*6 (c.375_376insA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573320316 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320316

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: P25L(c.74C>T) and D126Rfs*6(c.375_376insA) and E55Rfs(c.163delG)

      MultipleGeneVariants: Somatic, VHL, c.163delG (p.Glu55Argfs), Germline, VHL, c.74C>T (p.Pro25Leu)

      InheritancePattern:AutosomalDominant Mutation:Somatic Familial Ethnicity:Italian DiseaseEntity:VHL AgeOfPresentation:cerebellarhemangioblastoma:53 DiseaseEntity:cerebellarhemangioblastoma MultipleVHLVariants CAID:CA2573320316 ClinVarID:N/A MutationType:plus_1_frameshift_variant CivicName:P25L(c.74C>T)andD126Rfs*6(c.375_376insA)andE55Rfs(c.163delG) AminoAcidChange:ASPtoARG cDNAposition:375 ProteinPosition:126 AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 25 Oct 2026
      Case 3 (intradural tumor of T7 spinal nerve roots), which was first thought to be sporadic (non-familial) in 2001, was then re-classified as “HB-only VHLD” (form fruste of VHLD) after the patient’s sister, aged 53, was diagnosed with cerebellar HB (in the sister a germline point mutation and 2 somatic point mutations were found in the DNA of the cerebellar HB, and the case was included as case HB-25 in another study [28]). To the best of our knowledge, this is the first case of a patient with “HB-only VHLD” having clinical expression outside CNS.

      PCR amplification was performed searching for point mutation in the entire VHL coding sequence and promoter region, including exon-intron boundaries. Amplification was performed in a Gene Amp PCR System 9700 (Perkin Elmer). When mutations were detected in DNA from tumor samples, it was searched for in the corresponding peripheral blood DNA in order to identify germline mutations. For case 3, table 2 described no mutations found through analysis of HB and peripheral blood. Case 3 was thus said to have sporadic, non-familial disease - however, her sister at 53Y had a single cerebellar hemangioblastoma, with 1 germline and 2 somatic point mutations. These are described further in PMID: 24335534 as P25L(c.74C>T) [germline], D126Rfs*6(c.375_376insA) [somatic], and E55Rfs(c.163delG) [somatic]. It is unclear as to whether the germline mutation was confirmed in case 3.

      EvidenceStatement ClinVarID:428800 CAID:CA2573320316 ClinVarID:93330 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0344033818303327