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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Bilateral renal tumors; conventional clear cell carcinoma and contralateral t(6;11)/t(X;17)-like tumor Histomorphologic, immunohistochemical, ultrastructural and molecular genetic studies including the report of a novel mutation in the VHL gene
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    1. ClingenBaseline 13 Nov 2026
      A 34-year-old pregnant woman with bilateral kidney tumors 9.5 and 2.5 cm in maximum diameter is presented. The larger tumor was clear renal cell carcinoma. The smaller contralateral tumor was focally HMB45 positive and had unusual histomorphology, including features resembling clear renal cell carcinoma with features of both t(6;11)- and t(X;17)/ASPL-TFE3 carcinomas. This tumor displayed a complex karyotype. A novel germ line mutation in the VHL gene (c.439A>G/p.I147V) was also identified in this patient.

      PatientID: 1 (case)

      KindredID: 1

      Case: F, 34Y0M, Ethnicity Unknown

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: No family information/ history was given. She was 19 weeks pregnant, however no other mentions of family.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: The patient had bilateral kidney tumors (9.5 and 2.5 cm in maximum diameter). The larger tumor was clear renal cell carcinoma. The smaller contralateral tumor was focally HMB45 positive and had unusual histomorphology, including features resembling clear renal cell carcinoma with features of both t(6;11)- and t(X;17)/ASPL-TFE3 carcinomas

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.I147V (c.439A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 371833 https://www.ncbi.nlm.nih.gov/clinvar/variation/371833/

      CAID: N/A

      gnomAD: 0.00001061 https://gnomad.broadinstitute.org/variant/3-10188296-A-G

      VariantEvidence: HMB45-positive renal tumor resembling a t(6;11) carcinoma. There was a detection of translocation t(6;11) (Alpha/TFEB) and translocation t(X;17) (ASPL/TFE3). LOH was observed in the left-sides cRCC tumor.

      MutationType: missense_variant;transition

      CivicName: I147V (c.439A>G)

      MultipleGeneVariants: N/A

      Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:clearcellrenalcellcarcinoma InheritancePattern:AutosomalDominant ClinVarID:371833 ClinVarID:Yes ProteinPosition:147 cDNAposition:439 MutationType:missense_variant;transition CivicName:I147V(c.439A>G) AminoAcidChange:ILEtoVAL NoFamilyInfo ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/20952280/