Hypothesis

A 38-year-old male patient visited the Department of Urology at the Affiliated Hospital of Zunyi Medical College on 27 April 2015, due to the detection of a mass in the right kidney during physical examination. The patient had previously undergone extracorporeal shock wave lithotripsy in February 2010 at Changzheng Hospital (Zunyi, China) for the treatment of kidney stones (details are unknown). There was no history of hypertension, infectious diseases or allergy.

PatientID: II-4

KindredID: 3

Case: M, 38Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: The patient's mother (I-2) died as a result of pancreatic cancer. The eldest sister of the patient (II-1) underwent surgery for a brain tumor and had pancreatic and renal cysts. Another sister (II-2) underwent surgery for breast cancer. The patient's two sons (III-6 and III-7) were found to harbour their father's VHL mutation. See Figure 3 for family pedigree.

CasePresentingHPOs: HP:0006770, HP:0001737, HP:0009713, HP:0000107, HP:0000787 (clear cell renal cell carcinoma, pancreatic cysts, spinal hemangioblastoma, renal cysts, nephrolithiasis)

CaseHPOFreeText: The patient was treated for kidney stones at age 33. At age 38 he was found to have a mass in the right kidney. Upper abdominal CT revealed the presence of multiple nodules and lumpy low-density areas in the left and right kidneys with uneven density. Multiple round low-density lesions were observed in the left and right kidneys, and in the pancreas. Brain CT revealed no abnormalities, but sphenoiditis was observed on the right side. Thoracic MRI revealed a round-shaped mixed signal (diameter, 12.0 mm) in the sixth thoracic vertebra. Contrast-enhanced scanning revealed minor enhancement, which appeared to indicate the presence of a hemangioma. Postoperative pathological analysis confirmed that the tumor was a clear cell renal cell carcinoma.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167Q (c.500G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

CAID: CA020454 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.500G%3EA

gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R167Q (c.500G>A)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:spinalhemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:Nephrolithiasis ageofpresentation:Nephrolithiasis:33 AgeOfPresentation:clearcellrenalcellcarcinoma:38 AgeOfPresentation:renalcyst:38 AgeofPresentation:pancreaticcysts:38 AgeOfPresentation:spinalhemangioblastoma:38 AssumedRefSeq:NM_000551.3 Mutation:Germline CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 CAID:CA020454 MutationType:missense_variant;transition familypedigree ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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