Clinical Case This is a 32 year-old Thai male with VHL diagnosed at age 20 when he was found to have a cerebellar hemangioblastoma. Genetic testing revealed a large deletion of exon 3 and poly A sites of VHL gene. Abdominal CT obtained as part of routine surveillance demonstrated multiple cystic lesions with rim enhancement in the pancreas. Based on CT characteristics, these lesions were presumed benign thus regular follow-up abdominal imagings were not performed. 10 years later, he developed abdominal discomfort. CT abdomen showed multiple solid and cystic enhancing lesions involving the entire pancreas with a hypervascular mass at segment 7 of liver. Given radiological findings, he was diagnosed with malignant pancreatic neuroendocrine tumor (PNET) with liver metastasis, thereupon underwent total pancreactomy with wedge resection of the liver mass. Surprisingly, the histopathology revealed a serous cystadenocarcinoma in the pancreas measuring 28 x 11.5 x 7 cm and a 4.5 x 4.5 x 3 cm metastatic lesion in the liver with hepatic capsular invasion. Since then annual abdominal CTs have been performed. Until present, there has been no evidence of tumor recurrence.
PatientID: N/A (Case)
KindredID: 1
Case: M, 32Y0M, Thai (South Asian)
DiseaseAssertion: VHL
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CasePresentingHPOs: HP:0006880; HP:0030405 (cerebellar hemangioblastoma; pancreatic endocrine tumor)
CaseHPOFreeText: This male was diagnosed with VHL at 20Y when he was found to have a cerebellar hemangioblastoma. Abdominal CT obtained as part of routine surveillance demonstrated multiple cystic lesions with rim enhancement in the pancreas. 10 years later, he developed abdominal discomfort, and an abdomen CT showed multiple solid and cystic enhancing lesions involving the entire pancreas with a hypervascular mass at segment 7 of liver. Given radiological findings, he was diagnosed with malignant pancreatic neuroendocrine tumor (PNET) with liver metastasis, thereupon underwent total pancreactomy with wedge resection of the liver mass. Surprisingly, the histopathology revealed a serous cystadenocarcinoma in the pancreas measuring 28 x 11.5 x 7 cm and a 4.5 x 4.5 x 3 cm metastatic lesion in the liver with hepatic capsular invasion.
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Variant: Exon 3 deletion
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VariantEvidence: Genetic testing revealed a large deletion of exon 3 and poly A sites of VHL gene.
MutationType: exon_loss_variant
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MultipleGeneVariants: N/A