PatientID: 1 (case)
KindredID: 1
Case: F, 32Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: The patient’s mother had a history of hemangioblastoma located in thoracic cord, however no testing was mentioned
CasePresentingHPOs: HP:0001737; HP:0009713 (pancreatic cysts, spinal hemangioblastoma)
CaseHPOFreeText: she presented with 2-month history of severe glutea and right leg pain. At 32Y, MRI showed a well-demarcated, ellipsoidal mass at the level of L5 which almost completely obliterated the spinal canal (originally thought to be a cauda equine nerve sheath tumour). Immunohistology confirmed a hemangioblastoma. MRI scans of abdomen displayed multiple cysts of the pancreatic body
CaseNotHPOs: HP:0010797; HP:0000107 (hemangioblastoma, renal cyst)
CaseNotHPOFreeText: There are no other tumours in brain scans; MRI scans of abdomen displayed but no change in renal
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.E94*(c.280G>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 584477 https://www.ncbi.nlm.nih.gov/clinvar/variation/584477/
CAID: N/A
gnomAD: N/A
VariantEvidence: Not explicitly said to be germline. However family history gives presumption, and: “the final diagnosis of VHL is based on the VHL gene mutation analysis and the demonstration of clinical manifestation”. On immunohistochemistry, the endothelial cells were positive for CD31 and CD34, and the stromal were positive for NSE and vimentin, were negative for Ki-67/MIB-1, GFAP and AE1/AE3, EMA, S-100 and P53
MutationType: stop_gained
CivicName:p.E94*(c.280G>T)
MultipleGeneVariants: N/A