The 24 year-old woman was diagnosed at age 20 with VHL. She had bilateral retinal angiomas that were treated by laser coagulation in 2003. The left eye was treated by laser coagulation several times and subsequently by vitrectomy. Molecular genetic investigation of a blood sample showed a large deletion of exon 3 of the VHL gene. The family history was negative.The patient was admitted for a complete clinical investigation to the Freiburg Preventive Medicine Center. MRI of the CNS revealed multiple hemangioblastomas of the spinal cord but no intracerebral hemangioblastomas. MRI of the abdomen showed multiple cysts in the pancreatic head with a maximum diameter of 4 cm and pancreatic duct ectasia. In addition, a lesion was detected in the pancreatic tail that measured 2.3 × 1.6 cm in the axial view (Fig. 1a). There was moderate contrast enhancement of the tumor. The kidneys and paraganglia were without pathological changes. Two years later, the tumor had grown to 1.9 × 2.9 cm.
PatientID: 1
KindredID: 1
Case: F, 24Y0M, German
DiseaseAssertion: VHL
FamilyInfo: None
CohortInfo: All patients from the German registry for VHL with PNETs >3 cm diameter with tumours located in the pancreatic body or tail region.
CasePresentingHPOs: HP:0009711, HP:0009713, HP:0001737, HP:0030405 (retinal capillary hemangioma, spinal hemangioblastoma, pancreatic cysts, pancreatic endocrine tumour)
CaseHPOFreeText: Diagnosed with VHL at age 20. At age 24 presented with multiple hemangioblastomas of the spinal cord, multiple cysts in the pancreatic head with a maximum diameter of 4 cm, pancreatic duct ectasia, and lesion was detected in the pancreatic tail that measured 2.3 × 1.6 cm.
CaseNotHPOs: N/A
CaseNotHPOFreeText: No intracerebral hemangioblastomas. Kidneys and paraganglia were without damage.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: Exon 3 Loss
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: exon_loss_variant
CivicName: Null (Partial deletion of Exon 3)
MultipleGeneVariants: N/A