Introduction: Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by formation of tumors and cysts in various organs. Renal cancer and central nervous system angiomas (whose frequencies in VHL disease are estimated for 70% and 76% respectively) are considered main prognostic factors, with renal cancer being the most common cause of death. Neuroendocrine tumors of the pancreas occur in only 10 to 20% of VHL patients and are benign in the majority of cases. Surveillance in VHL does not comprise screening for pancreatic tumors.
Aim: The aim of the study was to present a patient with VHL disease. Despite the fact, that the patient was affected by renal cancer, retinal and central nervous system haemangioblastomas, it was pancreatic tumor that eventually led to her death.
Case study: E.W., aged 44, with VHL disease confirmed genetically (mutation: 525C>A,Y175X), was admitted to the Endocrinology Clinic in Lublin, Poland because of pancreatic tumor detected in computer tomography scanning. At that moment the patient presented already with haemangioblastomas of retina and was after treatment for renal cancer and brain neuroblastomas (clinically: blindness of right eye, amblyopia of the left eye, hemi-paresis, balance disorders, slowed down and shunted speech, left nephrectomy due to clarocellulare kidney cancer). The computer tomography revealed a richly vascularized neoplasm mass with calcifications and fluid component in pancreas head. Somatostatin receptor scintigraphy confirmed overexpression of receptors in that area suggesting its neuroendocrine character. No evident hormone activity of the tumor was stated. Neither tissue sample collection (despite the fact that the patient undergone esophageal ultrasonography) nor the surgery were performed because of high risk of perioperative hemorrhage. Thus, the pancreatic tumor was classified as unresectable. Control image studies revealed progression of the tumor (48×57 mm in the first CT scanning in 2011 vs 61×76 mm in the last CT scanning in 2018). The growing pancreatic tumor lead eventually to high occlusion of gastrointestinal tract. Again, at this moment, the patient was disqualified from surgery again. On account of malnutrition and cachexia, parental feeding was impleneted. However, the patient died.
Conclusion: Neuroendocrine tumors of pancreas, though usually of low mitogen activity, and not very common in VHL disease, should be regarded as a prognostic factor in the disease. Thus, screening for them should be an obligatory element of surveillance in VHL.
18 - 21 May 2019
European Society of Endocrinology