A 40-year-old woman was admitted to our hospital for further evaluation of a left RCC that had been found during a routine checkup. Computed tomography of the abdomen showed multiple, small tumors (≤10 mm in diameter) in the head of the pancreas as well as a left renal mass, measuring 8×7×6 cm in size (Fig. 1a). Selective abdominal angiography (via the celiac and supramesenteric arteries) disclosed numerous small tumor stains in the pancreatic head (Fig. 1b). Multiple pancreatic metastases from the left RCC were first suspected. Pancreatic microadenomatosis of MEN1 syndrome was also suggested, but no other lesions related to this syndrome (such as pituitary adenoma, parathyroid adenoma, or adrenocortical tumor) were observed. This patient had no clinical symptoms of inappropriate pancreatic hormone secretions such as insulin, glucagon, and gastrin.
PatientID: None
KindredID: 1
Case: F, 43Y0M, Ethnicity Unknown
DiseaseAssertion: Assumed VHL
FamilyInfo: None
CasePresentingHPOs: HP:0006770, HP:0030405, HP:0004510 (clear cell renal cell carcinoma, pancreatic endocrine tumour, Pancreatic islet-cell hyperplasia)
CaseHPOFreeText: At age 40 the patient presented with left sided clear cell renal cell carcinoma, islet cell hyperplasia, and pancreatic endocrine tumour. 46 months later the patient has no evidence of recurrence.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.R167W (c.499C>T)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVarID: 2218 https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/
CAID: N/A
gnomAD: 0.000007954 https://gnomad.broadinstitute.org/variant/3-10191506-C-T
VariantEvidence: Both the hyperplastic islet cells and pancreatic microadenomas stained negatively for marker upon immunohistochemical testing for hypoxia-inducible factor (HIF)-1α.
MutationType: missense_variant; transition
CivicName: R167W (c.499C>T)
MultipleGeneVariants: N/A