4 Matching Annotations
  1. Last 7 days
  2. www.jstage.jst.go.jp www.jstage.jst.go.jp
    A Case of von Hippel-Lindau Disease with Bilateral Pheochromocytoma, Renal Cell Carcinoma, Pelvic Tumor, Spinal Hemangioblastoma and Primary Hyperparathyroidism
    1
    1. ClingenBaseline 14 Nov 2026
      A 78-year-old woman had a history of hypertension from her forties. She suffered from headache and body weight loss. Abdominal CT revealed bilateral adrenal tumors and right external renal tumors enhanced in early stage. MIBG scintigraphy exhibited a high accumulation of tracer in both adrenal glands. On the basis of the radiographic findings and endocrinological results, the patient was diagnosed as having bilateral pheochromocytomas and right renal cell carcinoma. A bilateral adrenectomy was performed, followed by surgery for resection of the renal cell carcinoma. The other resected right kidney showed a clear cell subtype that was determined to be renal cell carcinoma, and proved that the pelvic tumor was transient cell carcinoma. Spinal MRI showed spinal hemangioblastoma.

      PatientID: None

      KindredID: 1

      Case: F, 78Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748; HP:0005584; HP:0006762; HP:0009713; HP:0008200 (Adrenal pheochromocytoma, renal cell carcinoma, pelvic carcinoma, spinal hemangioblastoma, primary hyperparathyroidism)

      CaseHPOFreeText: The patient presented with a 3 year history of unstable blood pressure, headache, and chest oppression. The patient had been suffering from hypertension for 35 years. Upon initial examination, she was diagnosed with bilateral adrenal pheochromocytomas, right renal cell carcinoma, and right pelvic carcinoma (transient cell carcinoma). The blood pressure of the patient decreased after the operation, but returned to its preoperative level one month later. Two months after the initial diagnosis, the patient was diagnosed with spinal hemangioblastoma and primary hyperthyroidism. The calcium serum levels of the patient decreased after the operation, but returned to its preoperative level one month later.

      CaseNotHPOs: HP:0008046 (Abnormal retinal vascular morphology)

      CaseNotHPOFreeText: Fundoscopy did not show vascular abnormalities of the retina.

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98C (c.293A>G)

      LegacyVariant: p.Y98C (c.506A>G)

      ClinVarID: 223176, https://www.ncbi.nlm.nih.gov/clinvar/variation/223176/

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Y98C(c.293A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:transientcellcarcinoma DiseaseEntity:primaryhyperparathyroidism DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:78 AgeOfPresentation:renalcellcarcinoma:78 AgeOfPresentation:transientcellcarcinoma:78 AgeOfPresentation:primaryhyperparathyroidism:78 AgeOfPresentation:spinalhemangioblastoma:78 Mutation:Germline RefSeq:N/A AssumedRefSeq:AF010238.1 cDNAposition:293 ProteinPosition:98 ClinVarID:Yes ClinVarID:223176 AminoAcidChange:TYRtoCYS MutationType:missense_variant;transition PreviousTesting:RET CivicName:Y98C(c.293A>G) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jstage.jst.go.jp/article/endocrj/49/2/49_2_181/_article
  3. Nov 2026
  4. journals.lww.com journals.lww.com
    Six weeks into the 2019 coronavirus disease (COVID-19)... : Chinese Medical Journal
    1
    1. ClingenBaseline 05 Nov 2026
      (c.233A>G [p.Asn78Ser]

      PatientID: 5

      KindredID: 5

      Case: 28Y0M, Sex unknown, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs:  HP:0010797; HP:0005584 (hemangioblastoma, renal cell carcinoma)

      CaseHPOFreeText: CNS hemangioblastoma first presenting at age 28Y and RCC at age 28Y

      CaseNotHPOs: HP:0009715; HP:0002666 (Papillary cystadenoma of the epididymis, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL Ethnicity:Chinese Mutation:Germline RefSeq:NM_000551.2 DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:hemangioblastoma:28 AgeOfPresentation:renalcellcarcinoma:28 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes MutationType:missense_variant;transition NonFamilial ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals.lww.com/cmj/fulltext/2007/11020/management_of_solid_renal_tumour_associated_with.22.aspx
  5. Oct 2026
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease
    1
    1. ClingenBaseline 28 Oct 2026

      PatientID: 15

      KindredID: 15

      Case: M, 34Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None.

      CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

      CasePresentingHPOs: HP:0010797, HP:0005584 (Hemangioblastoma, renal cell carcinoma )

      CaseHPOFreeText:N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 19949673

      SupplementalData: N/A

      Variant: p.N78S(c.233A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType:missense_variant;transition

      CivicName: N78S(c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline Ethnicity:Korean NonFamilial DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:34 AgeOfPresentation:renalcellcarcinoma:34 MutationType:missense_variant;transition ClinVarID:Yes AssumedRefSeq:NM_000551.3 AminoAcidChange:ASNtoSER ProteinPosition:78 CivicName:N78S(c.233A>G) cDNAposition:233 ClinVarID:93326 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25078357/
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A long-term survivor of metachronous liver metastases of pancreatic serous cystic neoplasm associated with von Hippel-Lindau disease
    1
    1. ClingenBaseline 25 Oct 2026
      Case presentationA 35-year-old woman with VHL underwent total pancreatectomy and right nephrectomy for pancreatic SCN and renal cell carcinoma, respectively. At the 4th year follow-up examination after the resection, contrast-enhanced computed tomography (CT) and gadolinium ethoxybenzyl diethylenetriamine penta-acetic acid (Gd-EOB-DTPA)-enhanced magnetic resonance imaging (MRI) showed arterially hyper-enhanced neoplastic lesions in the segment VI and VIII of the liver. Partial resections of the liver were performed 53 months after the initial surgery. At the 6th month follow-up examination from the second surgery, one and two tumors located in the liver segment III, and VIII, respectively, were detected by contrast-enhanced CT and Gd-EOB-DTPA-enhanced MRI. Anterior segmentectomy and partial resection of the segment III were performed 66 months after the initial surgery and 13 months after the second, respectively. The tumors were pathologically diagnosed as liver metastases of pancreatic SCN synonymous with serous cystadenocarcinoma. She remains disease-free without recurrence 6.5 years after the last operation.

      PatientID: 1

      KindredID: 1

      Case: F, 47Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history.

      CasePresentingHPOs: HP:0006880; HP:0002894; HP:0005584 (Cerebellar Hemangioblastoma; neoplasm of the pancreas; renal cell carcinoma)

      CaseHPOFreeText: At 35-year old, the female patient was diagnosed with VHL due to clinical presentation of pancreatic serous cystic neoplasm and renal cell carcinoma, and cerebellar hemangioblastomas that were surgically removed at age 21. The patient had underwent total pancreatectomy and right nephrectomy for pancreatic serous cystic neoplasm (SCN) and renal cell carcinoma (RCC), respectively. 4 years later, tumors in the liver were detected by CT scan and radiographically diagnosed as metasta-ses of the pancreatic SCN or RCC. Again, morphology and immunohistochemical findings of the resected tumors again were similar to the primary pancreatic SCN, thus diagnosed as multiple metachronous liver metastases of pancreatic SCN. As of 47Y, the patient has remained disease-free without any recurrence after the third operation.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21673464

      SupplementalData: N/A

      Variant: p.N78I (c.233A>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223169 https://www.ncbi.nlm.nih.gov/clinvar/variation/223169/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: N78I (c.233A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:neoplasmofthepancreas AgeOfPresentation:neoplasmofthepancreas:35 AgeOfPresentation:cerebellarhemangioblastoma:21 AgeOfPresentation:renalcellcarcinoma:25 ClinVarID:223169 ClinVarID:Yes CivicName:N78I(c.233A>T) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoILE MutationType:missense_variant;transition NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8245617/