We previously reported a case of VHL with a germline VHL mutation, 233 A > T, who underwent total pancreatectomy for multiple SCNs and right nephrectomy for renal cell carcinoma [8]. Herein, we report that this case developed multiple metachronous liver metastases of the SCN after the initial operation and underwent surgical resections for the metastases. This patient has been alive without any recurrence more than 6 years after the metastasectomies.
A 35-year old woman was diagnosed with VHL due to clinical presentation of pancreatic serous cystic neoplasm and renal cell carcinoma at age 35, and cerebellar hemangioblastomas that were surgically removed at age 21. She had no family history. Genetic testing performed for her previous case report (PMID: 21673464) revealed a N78I (c.233A>T) missense mutation in the VHL gene. The patient had previously underwent total pancreatectomy and right nephrectomy for pancreatic serous cystic neoplasm (SCN) and renal cell carcinoma (RCC), respectively. Since her surgery, she had follow-up examinations performed every 6 months. At the 4th year follow up, tumors in the liver were detected by CT scan and radiographically diagnosed as metastases of the pancreatic SCN or RCC. 53 months after the initial surgery, partial resections of the liver were performed. Immunohistochemical findings of the resected liver tumour were similar to the primary pancreatic SCN, and not the RCC. Thus, the liver tumors were pathologically diagnosed as liver metastases of the pancreatic SCN. After the second surgery, follow up examinations continued to be performed every 6 months. At the first follow-up, 3 tumors in the liver were detected by CT and MRI. After 6 months, no increase in the number of tumours were detected. Anterior segmentectomy and partial resection of segment III of the liver were done 66 months after 1st surgery and 13 months after second surgery, respectively. 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. Since then the patient has remained disease-free without any recurrence after the third operation for 6.5 years until the last follow-up.