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.E55Rfs*12 (c.163delG)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 428800 https://www.ncbi.nlm.nih.gov/clinvar/variation/428800/?new_evidence=false
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: minus_1_frameshift_variant
CivicName: P25L(c.74C>T) and D126Rfs*6(c.375_376insA) and E55Rfs(c.163delG)
MultipleGeneVariants: Somatic, VHL, c.375insA (p.Asp126Argfs), Germline, VHL, c.74C>T (p.Pro25Leu)