Phaeochromocytoma is a rare disease in childhood with a subtle and wide range of clinical presentations. We report two confirmed cases and one potential case of phaeochromocytoma, each belonging to a different disease spectrum or syndromal disorder, namely sporadic phaeochromocytoma, von Hippel-Lindau disease, and multiple endocrine neoplasia type 2a. Knowledge of the molecular basis of the con...

Von Hippel-Lindau (VHL) disease is a rare type of oncological disease with an incidence of 1/36,000 individuals in the general population [1,2]. The most frequent tumors are hemangioblastomas (HB) of the central nervous system (CNS) and retina, as well as renal cell carcinoma [3,4]. In addition, pheochromocytomas, pancreatic neuroendocrine tumors, pancreatic serous cystoadenomas, endolymphatic ...

n engl j med 354;25 www.nejm.org june 22, 2006 2731 paraganglioma syndrome 1; in the extent of multifocal tumors in the group with MEN-2, the group with von Hippel–Lindau disease, and the group with paraganglioma syndrome 1; and in the extent of extraadrenal tumors in the group with MEN-2, the group with von Hippel–Lindau disease, the group with paraganglioma syndrome 1, and the group with para...

This report describes clinical characteristics in families with a Type 2A phenotype and functional properties of a novel von Hippel Lindau variant (X214L). Pedigrees were analyzed. Analysis of von Hippel Lindau (VHL) coding exons and flanking intronic sequences in DNA from a proband with pheochromocytoma and islet cell tumor was performed. Western blot assays for VHL protein (pVHL), HIFα, and J...

CONTEXT Von Hippel Lindau disease is a rare autosomal dominantly inherited multisystem disorder characterized by development of benign and malignant tumors. The abdominal manifestation of the syndrome are protean. Magnetic resonance plays an important role in identification of abdominal abnormalities and follow-up of lesions. OBJECTIVE To describe magnetic resonance imaging findings and patte...

S June 4th – 6th, 2006 Hotel Jerome Aspen, Colorado Progress: From Bench to Bedside Platform & Poster Presentations

Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome caused by mutations in the VHL tumour suppressor gene. VHL disease is characterised by marked phenotypic variability and the most common tumours are haemangioblastomas of the retina and central nervous system and clear cell renal cell carcinoma. However, endocrine tumours, most commonly phaeochromocytoma and non-...

von Hippel-Lindau disease (VHL) patients develop highly vascular tumors, including central nervous system hemangioblastomas. It has been hypothesized that the vascular nature of these tumors is the product of reactive angiogenesis. However, recent data indicate that VHL-associated hemangioblastoma neoplastic cells originate from embryologically-arrested hemangioblasts capable of blood and endot...

von Hippel-Lindau (VHL) disease is an inheritable multisystem tumor syndrome characterized by multiple benign and malignant tumors affecting multiple organs. VHL is the result of a germline mutation in the VHL tumor suppressor gene. Molecular genomic analysis routinely confirms the clinical diagnosis. However, the use of molecular diagnostic methods can often be insufficient for the detection o...

A genetic register for von Hippel-Lindau disease was set up in the north west of England in 1990. Population statistics, clinical features, age at onset, and survival of 83 people affected with von Hippel-Lindau (VHL) disease were studied. In addition, the effectiveness of the screening programme used and the occurrence of central nervous system haemangioblastomas in the general population were...