Patient II‐1 was admitted to the Department of Urinary Surgery and Neurosurgery in October 2007 and again in December 2015. In the first hospitalization, a serendipitous left kidney mass was found, but no symptoms. Abdominal CT revealed a solid cystic mass on the inside of the left kidney with irregular enhancement (Figure (Figure2b),2b), indicating a radiological diagnosis of RCCC. A laparoscopic radical nephrectomy was performed, and pathology confirmed the diagnosis of clear cell carcinoma. In the second hospitalization, the patient was admitted with complaints of headache and dizziness for 2 months. A brain MRI showed a right CH (Figure (Figure2c).2c). Tumor resection was performed through a posterior approach, and pathology confirmed the diagnosis of hemangioblastoma. In the most recent follow‐up, his symptoms had disappeared, and radiological imaging revealed no recurrence in either the brain or abdomen.
PatientID: II-1
KindredID: 1
Case: M, 45Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Both of the patient’s brothers (Patient II-3 and II-4), the patient’s sister (II-5), and the patient’s nephew (III-3) were clinically diagnosed with VHL disease. Patient II-4 presented with RCCC at age 53, and carried the mutation NM_000551.3:c.269A>T. Patient III-3 presented with CH and carried the same mutation. The patient’s other brother (Patient II‐3) and sister (Patient II‐5) were deceased and had an undetermined mutation. Patient II-3 died of an advanced RCCC, and Patient II‐5 died of a ruptured CH. The patient’s parents (Patient I-1 and I-2) were also deceased from other causes. The patient’s grand-nephew (Patient IV‐1) was healthy and did not carry the mutation.
CasePresentingHPOs: HP:0006770; HP:0006880 (Renal clear cell carcinoma, cerebellar hemangioblastoma)
CaseHPOFreeText: The 45Y male patient was diagnosed with left RCCC at 33Y, but had no symptoms. The patient presented with complaints of headache and dizziness at age 41Y, and was diagnosed with a right cerebellar hemangioblastoma. In the most recent follow‐up, his symptoms had disappeared, and radiological imaging of the brain and abdomen revealed no recurrence.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: Supplementary Table 1&2 gives information on genetic mutations observed in the CH and RCC tissues of this patient.
Variant: p.N90I (c.269A>T)
LegacyVariant: N/A
ClinVarID: 223172, https://www.ncbi.nlm.nih.gov/clinvar/variation/223172/
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transversion
CivicName: N90I(c.269A>T)
MultipleGeneVariants: Supplementary Table 1&2 gives information on genetic mutations observed in the CH and RCC tissues of this patient