3 Matching Annotations
  1. Last 7 days
  2. link-springer-com.proxy1.lib.uwo.ca link-springer-com.proxy1.lib.uwo.ca
    Laparoscopic Organ-Sparing Resection of Von Hippel-Lindau Disease-Associated Pancreatic Neuroendocrine Tumors
    1
    1. ClingenBaseline 02 Nov 2026
      A female patient observed reduced vision in the right eye at age 17 years. She was diagnosed with retinal angiomatosis of the right eye. Laser therapy and brachytherapy were performed. Vision of the right eye remained reduced to 15%. At age 24, a hemangioblastoma of the cervical spinal cord was resected. At age 27, she underwent craniotomy for a cerebellar hemangioblastoma. Genetic testing revealed the mutation VHL c.394 C > T, which predict a truncated VHL protein (Q132X). In 2007, a 20 mm diameter left renal tumor was detected but not resected owing to its small size, as internationally recommended [1].In 2009 at age 38, abdominal MRI and CT angiography showed, in the axial view, a solid, 3.6 × 3.3 cm tumor of the pancreatic tail (Fig. 2a). Early arterial phase imaging after contrast injection revealed that the tumor had significant hyperperfusion. In addition, multiple pancreatic cysts were noted.

      PatientID: 2

      KindredID: 2

      Case: F, 38Y0M, German

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo:All patients from the German registry for VHL with PNETs >3 cm diameter with tumours located in the pancreatic body or tail region.

      CasePresentingHPOs: HP:0009711, HP:0009713, HP:0006880, HP:0009726, HP:0030405, HP:0001737 (retinal capillary hemangioma, spinal hemangioblastoma, cerebellar hemangioblastoma, renal neoplasm, pancreatic endocrine tumour, pancreatic cysts)

      CaseHPOFreeText: Retinal angiomatosis at age 17, hemangioblastoma of the cervical spinal cord at age 24, cerebellar hemangioblastoma at age 27, left renal tumor at age 36. Pancreatic endocrine tumour and pancreatic cysts at age 38. She had a laparoscopy which found an 8-cm retrogastric cyst, 3.2-cm benign PNET, and a serous cystadenoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q132* (c.394C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 288749 https://www.ncbi.nlm.nih.gov/clinvar/variation/288749/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q132* (c.394C>T)

      MultipleGeneVariants: N/A

      MutationType:stop_gained InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:German DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:RetinalCapillaryHemangioma:17 DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:24 DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:27 DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:38 AgeofPresentation:pancreaticcysts:38 DiseaseEntity:pancreaticcysts DiseaseEntity:Renalneoplasm AgeOfPresentation:renalneoplasm:36 AssumedRefSeq:NM_000551.3 cDNAposition:394 ProteinPosition:132 AminoAcidChange:GLNto* ClinVarID:288749 ClinVarID:Yes CivicName:Q132*(c.394C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link-springer-com.proxy1.lib.uwo.ca/article/10.1007/s00268-010-0878-5
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome
    1
    1. ClingenBaseline 01 Nov 2026
      Patient P9 In 2005, a 32-year-old woman was examined at the clinic. The patient had been diagnosed in 2000 with multiple cerebellar and spinal hemangioblastomas. BCVA was 20/20 and 20/25 in OD and OS, respectively. No retinal abnormalities were found in OD. A peripheral superior RCH, already partially treated with laser photocoagulation, was observed in OS. FA showed the presence of many tiny RCHs that surrounded the major lesion. Further laser treatments were scheduled, but the patient was lost at follow-up. She came to the ophthalmic emergency service three years later; BCVA of OS had decreased to 20/640, and she presented an exudative retinal detachment that involved the posterior pole. The partially treated RCH of OS had become more extensive, and FA revealed that the tiny RCHs had increased in number. In 2008, a scleral buckle with transscleral cryotherapy was performed in OS; however, at follow-up the retinal detachment was still present, and the patient developed neovascular glaucoma with a seclusio pupillae. Visual acuity of OS was no light perception. RCHs were not detected during follow-up in OD.

      PatientID: 9

      KindredID: 5

      Case: F, 46Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: A family pedigree is provided in figure 1. Neither parent had VHL syndrome characterized by retinal capillary hemangiomas (RCHs). They likely did not undergo molecular testing because there was no mention of de novo status.

      CasePresentingHPOs: HP:0006880; HP:0009711; HP:0009713; HP:0000541 (Cerebellar hemangioblastoma; Retinal capillary hemangioma; Spinal hemangioblastoma; Retinal detachment)

      CaseHPOFreeText: A 32-year-old woman had been diagnosed in 2000 with multiple cerebellar and spinal hemangioblastomas. In 2005, she was examined at the eye clinic and were visual acuity was 20/20 and 20/25 in the right and left eye, respectively. No abnormalities were found in the right eye, but a peripheral RCH that was already partially treated with laser was observed in the left eye. Many tiny RCHs that surrounded the major lesion were also detected in this eye. Further laser treatments were scheduled, but the patient did not follow-up and instead came to the ophthalmic emergency service three years later. Visual acuity of the left eye worsened to 20/640, and she presented with retinal detachment. The partially treated RCH of the left eye worsened and and more tiny RCHs were detected. Cryotherapy was performed in the left eye but retinal detachment was still present at follow up. On follow up, no RCHs were detected in the right eye and vision loss developed in both eyes.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Patient did not have other known tumours.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R113* (c.337C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 220414, https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R113* (c.337C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:stop_gained FamilyPedigree ClinVarID:Yes DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:retinaldetachment AgeOfPresentation:cerebellarhemangioblastoma:27 AgeOfPresentation:spinalhemangioblastoma:27 AgeOfPresentation:retinalcapillaryhemangioma:27 AgeOfPresentation:retinaldetachment:35 ClinVarID:220414 CivicName:R113*(c.337C>T) cDNAPosition:337 ProteinPosition:113 AminoAcidChange:ARGtoTER AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8416136/
  4. Oct 2026
  5. link.springer.com link.springer.com
    Total pancreatectomy for multiple neuroendocrine tumors of the pancreas in a patient with von Hippel–Lindau disease
    1
    1. ClingenBaseline 23 Oct 2026
      A 33-year-old Japanese woman had suffered back pain for seven years. She was referred to our institute because multiple solid tumors in the pancreas had gradually increased in size, which was pointed out at 27 years of age. She had a medical history of treatment for a variety of VHLD-associated tumors, including a pancreatic NET surgically resected at 14 years of age, hemangiomas of the fourth ventricle and cervical spinal cord operated at 19 years of age, and a renal cell carcinoma of the right kidney treated by nephrectomy at 30 years of age.

      PatientID: None

      KindredID: 1

      Case: F, 33Y0M, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: Her father and elder brother were also diagnosed with VHLD, with her father having a medical history of two surgical resections for pancreatic NET and associated metastatic recurrence in the liver.

      CasePresentingHPOs: HP:0030405, HP:0009713, HP:0005584, HP:0010797 (Pancreatic endocrine tumor, Spinal hemangioblastoma, Renal cell carcinoma, hemangioblastoma)

      CaseHPOFreeText: She first developed multiple solid tumors of the pancreas at age 27 and they continued to grow until she was referred to the institute at age 33. She had a pancreatic endocrine tumour at age 14. At age 19, she had hemangiomas of the fourth ventricle and cervical spinal cord and a renal cell carcinoma of the right kidney treated by nephrectomy at 30 years of age.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      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: Immunohistochemical studies revealed that the tumor cells were positive for synaptophysin and chromogranin A.

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 Ethnicity:Japanese Familial DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:27 AgeOfPresentation:pancreaticendocrinetumor:14 DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:19 DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:30 DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:30 MutationType:missense_variant;transition CivicName:R167Q(c.500G>A) cDNAposition:500 AminoAcidChange:ARGtoGLN ProteinPosition:167 ClinVarID:2216 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s12328-009-0071-2