3 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family
    1
    1. ClingenBaseline 03 Nov 2026
      Nine patients were diagnosed with pheochromocytoma. Lumbal spinal hemangioblastoma and pancreatic neuroendocrine tumor without pheochromocytoma were detected in one patient. In patients with pheochromocytoma, additional tumors, such as retinal angioma, renal cell carcinoma, pancreatic serous cystadenoma, and pancreatic neuroendocrine tumors were detected. All patients were diagnosed as VHL syndrome type 2B.

      PatientID: III-1

      KindredID: 1

      Case: M, 36Y0M, Turkish

      DiseaseAssertion: VHL

      FamilyInfo: 17 family members from three generations were examined with the c.445G>T mutation and diagnosed with VHL type 2B. 11 individuals had clinical manifestations and 6 were asymptomatic carriers. One additional member (II-9) had passed before testing however were likely a carrier of the mutation. This patient’s mother, brother, two daughters, and more, had the mutation. See Fig. 1 for full family pedigree.

      CasePresentingHPOs: HP:0006748; HP:0005584; HP:0030405 (adrenal pheochromocytoma; renal cell carcinoma; pancreatic endocrine tumor)

      CaseHPOFreeText: Right adrenal (nonfunctional) pheochromocytoma, had a history of bilateral adenomectomy due to bilateral pheochromocytoma diagnosed when he was 12. He also has bilateral RCC and pancreatic neuroendocrine tumors

      CaseNotHPOs: HP:0030393; HP:0009715 (endolymphatic sac tumor, papillary cystadenoma of the epididymis) 

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.A149S (c.445G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 127829 https://www.ncbi.nlm.nih.gov/clinvar/variation/127829/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: A149S (c.445G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Turkish DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:A149S(c.445G>T) cDNAposition:445 ProteinPosition:149 AminoAcidChange:ALAtoSER MutationType:missense_variant;transversion ClinVarID:127829 ClinVarID:Yes Familial FamilyPedigree AgeOfPresentation:adrenalpheochromocytoma:12 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/23673869/
  3. erc.bioscientifica.com erc.bioscientifica.com
    Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways
    1
    1. ClingenBaseline 03 Nov 2026
      VHL_17FFPEc.523T>Ap.Tyr175AsnM12AdrenalPCCB

      PatientID: VHL_17 (tumor ID)

      KindredID: 17

      Case: M, 12Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 12Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y175N (c.523T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756226, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.523T%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y175N (c.523T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:12 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:523 ProteinPosition:175 AminoAcidChange:TYRtoASN ClinVarID:N/A CAID:CA351756226 MutationType:missense_variant;transversion CivicName:Y175N(c.523T>A) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/4/477.xml
  4. Oct 2026
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective
    1
    1. ClingenBaseline 24 Oct 2026
      Case presentationFirst onsetA 19-years-old female was first found with occupation about 6.2 cm × 5.7 cm in the right adrenal five years ago based on CT scan at a regular physical examination, accompanied with fever and headache with high blood pressure. Tumor resection was performed, and pathological diagnosis was right pheochromocytoma. The patient was regularly subjected to follow-up.Secondary onsetDuring this hospitalization, CT scan found multiple tumor occupation in left adrenal and paraganglion region zones with round nodular shadows. Meanwhile, she had fever and headache with high blood pressure. Based on medical history and examination, she was diagnosed as left pheochromocytoma. Meanwhile, the occupying lesions in right lung and pancreas were found, located in extrabasal segment of inferior lobar and head respectively.Case characteristicsThe case characteristics were summarized: 1. A 12y female; 2. Tumor occupation was first found in right adrenal; 3. Tumor resection was performed and the pathological diagnosis was pheochromocytoma; 4. Multiple round nodular shadows were found in left adrenal and paraganglion region zones after five years; 6. The symptoms were fever and headache with high blood pressure; 7. The diagnosis was pheochromocytoma (PCC) and paraganglioma (PGL) (Combined PPGLs); 8. The occupying lesions located in right lung and pancreas were scanned and diagnosed with masses.Diagnostic methodThe patient was followed up regularly. Based on personal medical history, symptoms and imaging examinations, the patient was diagnosed as PPGLs combined with right lung and pancreas occupation.Multidisciplinary team discussion based on professional board indicated the following views: (1) The diagnosis was possibly considered as atypical VHL type II. Further qualitative diagnosis relied on genetic examination; (2) Other lesions like retina tumor should be examined. (3) PPGLs was surgically resected for pursuing pathological diagnosis. (4) The occupying lesions in right lung and pancreas were performed with puncture biopsy for further diagnosis. The diagnosis and treatment workflow were shown in Fig. 1.

      PatientID: 1 (case)

      KindredID: 1

      Case: F, 19Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748; HP:0002666; HP:0030445; HP:0030405 (adrenal pheochromocytoma; pheochromocytoma; Pulmonary carcinoid tumor; Pancreatic endocrine tumor)

      CaseHPOFreeText: At 12 years old, a female patient presented with fever and headache with high blood pressure. Upon a CT scan, a right adrenal tumor was detected and tumor resection was performed, revealing a pathological diagnosis of pheochromocytoma. Upon further review, a CT scan found multiple tumors in left adrenal and paraganglion region zones with round nodular shadows. She was diagnosed with pheochromocytoma (PCC) and paraganglioma (PGL). A lung puncture revealed a carcinoid and a pancreatic puncture indicates a neuroendocrine tumor. Left adrenalectomy and PPGL resection was performed and diagnosis was pathologically confirmed

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting:

      PreviouslyPublished: N/A

      SupplementalData: Yes (somatic info)

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2216, https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977, https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pulmonarycarcinoidtumor AgeOfPresentation:adrenalpheochromocytoma:12 AgeOfPresentation:pancreaticendocrinetumor:12 AgeOfPresentation:pulmonarycarcinoidtumor:12 AgeOfPresentation:pheochromocytoma:12 cDNAposition:500 MutationType:missense_variant;transition AminoAcidChange:ARGtoGLN ProteinPosition:167 CivicName:R167Q(c.500G>A) ClinVarID:2216 ClinVarID:Yes MultipleGeneVariants NoFamilyInfo SupplementalData PreviousTesting:MAX/NF1/RET/SDHB/SDHC/SDHD/SDHAF2 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8684656/