PatientID: None

KindredID: 1

Case: M, 39Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0006880, HP:0005584; HP:0030072 (Cerebellar hemangioblastoma, clear cell renal cell carcinoma, Paranasal sinus neoplasm)

CaseHPOFreeText: Previously undergone excision of cerebellar haemangioblastoma in 2003. He had also undergone bilateral nephron sparing surgery for ccRCC (stage pT1a, Fuhrman grade up to 3) in 2005 and renal radiofrequency ablation in both 2008 and 2012. CT imaging demonstrated an ethmoid mass measuring 35 × 34 × 44 mm. The patient underwent endoscopic transsphenoidal resection of the lesion in 2012. Two years later, in 2014, sinonasal tumour recurrence was suspected and imaging demonstrated limited progression in the nasal cavity. Excision biopsy was performed and appeared complete, with no evidence of residual tumour. Subsequently, symptoms recurred. Therapeutic excision was performed in 2015 and again in 2016. To date, the patient's VHL disease remains stable with no evidence of new lesions or metastatic disease.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: c.341-50G>A

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA541213560, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.341-50G%3EA

gnomAD: N/A

VariantEvidence: variant is a polymorphism (large allele frequency). Somatic mutation detected from sinonasal tumour DNA.

MutationType: splice_site_variant

CivicName: Exon 1 Deletion and c.341-50G>A

MultipleGeneVariants: Germline, VHL, c.1-?_340+?del

A 39 year old man was confirmed to have a germline exon 1 deletion of the VHL gene at age 26. Details regarding genotyping methods are not specified. He presented with epistaxis at age 34 and CT scans showed an ethmoid mass later identified as a primary microcystic adenoma. He underwent endoscopic transsphenoidal resection of the legion and he was negative for metastatic disease. Analysis of tumour DNA showed it to be heterozygous for an intron 1 polymorphism (c.341-50G>A). He had a history of cerebellar haemangioblastoma and ccRCC.