2 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Sinonasal renal cell-like adenocarcinoma arising in von Hippel Lindau (VHL) syndrome
    1
    1. ClingenBaseline 23 Oct 2026
      Clinical caseA 35-year-old African-American male with VHL syndrome presented with increasing nasal congestion and epistaxis. He had a past history of multiple benign CNS and visceral tumors from VHL syndrome and was known to harbor a pathogenic germline mutation in exon 3 of VHL, R161P (c.482G > C). Computed tomography (CT) imaging showed a right-sided nasal mass.Magnetic resonance imaging (MRI) further characterized a large enhancing mass extending through the right medial orbital wall with extraconal

      PatientID: N/A

      KindredID: 1

      Case: M, 35Y0M, African American

      DiseaseAssertion: VHL

      FamilyInfo: No family information provided. Patient’s had previous genetic testing that confirmed his genetic variant.

      CasePresentingHPOs: HP:0030072; HP:0010797 (Paranasal sinus neoplasm, hemangioblastoma)

      CaseHPOFreeText: Patient with known VHL disease presented with Sinonasal renal cell-like adenocarcinoma (SNRCLA). He also had a history of multiple CNS and visceral tumors consistent with VHL disease.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161P (c.482G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756111, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.482G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R161P (c.482G>C)

      MultipleGeneVariants: Somatic, MSH6, c.1867C>G (p.Pro623Ala); Somatic, MST1R, (p.Val772Met); Somatic, PIK3C2B, (p.His660Arg)

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion ClinVarID:N/A Ethnicity:AfricanAmerican DiseaseEntity:paranasalsinusneoplasm AgeOfPresentation:paranasalsinusneoplasm:35 CAID:CA351756111 NoFamilyInfo DiseaseEntity:VHL AssumedRefSeq:NM_000551.3 CivicName:R161P(c.482G>C) cDNAPosition:482 ProteinPosition:161 AminoAcidChange:ARGtoPRO DiseaseEntity:hemangioblastoma inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    sciencedirect.com/science/article/abs/pii/S1368837521008125
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Primary Clear Cell Microcystic Adenoma of the Sinonasal Cavity: Pathological or Fortuitous Association?
    1
    1. ClingenBaseline 23 Oct 2026
      A 39-year-old man with molecularly confirmed VHL disease presented with epistaxis in 2012. Molecular analysis had confirmed a germline VHL mutation in 2004. He had 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. Staging investigations were negative for metastatic disease.Two years later, in 2014, the patient developed symptoms of nasal obstruction. Sinonasal tumour recurrence was suspected. Imaging demonstrated limited progression in the nasal cavity. Excision biopsy was performed. Histology appeared consistent with the initial presenting sinonasal tumour. Excision 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.The patient remained under the management of specialist multidisciplinary (MDT) team which coordinated regular imaging surveillance and clinical review. The MDT recommended regular magnetic resonance imaging (MRI) surveillance with localised resection as applicable. More extensive surgery or adjuvant therapy was not felt to be indicated.

      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: Exon 1 Deletion (c.1-?_340+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

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

      MultipleGeneVariants: Somatic, VHL, c.341-50G>A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:paranasalsinusneoplasm AgeOfPresentation:paranasalsinusneoplasm:34 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A UnregisteredVariant MutationType:exon_loss_variant CivicName:Exon1Deletionandc.341-50G>A inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5316451/