Analysis of tumour DNA demonstrated no causative mutations; however, the tumour was heterozygous for an intron 1 polymorphism (c.341-50G>A), reducing the likelihood of LOH.
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