Endocrine Abstracts

Introduction: Von Hippel-Lindau disease (VHLD) is a rare autosomal-dominant syndrome, characterized by the development of multiple cysts and tumours, namely retinal and central nervous system hemangioblastomas, renal cell carcinoma (RCC), phaeochromocytoma, pancreatic endocrine tumours (PET) and endolymphatic sac tumours.

Most germinal mutations are missense, related to a high risk for presenting phaechromocytoma (specially if Arg167Trp mutation implied), which allow us to classify these patients as belonging to the type 2 VHLD.

Case report: Fifty seven years old woman with known thyroid nodule, hepatic and renal cysts and an important tumours’ family history. A follow-up ultrasound revealed a pancreatic and right adrenal nodules; she underwent cephalic duodenopancreatectomy and right adrenalectomy. Histological report of the surgical specimen referred islet hyperplasia, diffuse microadenomatosis, three PET and a phaechromocytoma with no malignancy evidence; all tissues stained for neuroendocrine markers.

She was admitted to our department for further study: neuroendocrine markers, gastrin, vasoactive intestinal peptide, serotonin, metanephrines and vanillylmandelic acid were normal; 5-hydroindolacetic acid was slightly elevated.

Biochemical and MRI study for pituitary showed no significant changes; parathyroid hormone, calcium and calcitonin levels were contained in normal reference ranges and the result of fine needle aspiration biopsy of thyroid nodule was benign.

The brain and spine MRI detected a injury located to the cerebellar fossa; no hemangioblastomas were found. The renal CT didn’t reveal any RCC; the ophthalmologic and otorhinolaryngologic evaluation was regular.

It was identified the germinal mutation Arg167Trp at exon 3 of VHL gene.

Discussion: VHLD has a marked phenotypic variability with strong genotypic correlation. It demands a strict follow-up accounting for the risk of emerging new tumours.

In this case, the identification of the implied mutation allows us to direct the relatives’ genetic study and, in the affected ones, to diagnose and treat opportunely.