Association of VHL genotype with pancreatic neuroendocrine tumor phenotype in patients with von hippel–lindau disease
Menée auprès de 229 patients (âge moyen : 49,6 ans) atteints de la maladie de von Hippel-Lindau, cette étude identifie les caractéristiques génétiques de la maladie associées au risque de tumeur neuroendocrine du pancréas
Von Hippel–Lindau (VHL) disease is a familial cancer syndrome caused by a germline mutation in the VHL tumor suppressor gene (OMIM 193300). The prevalence of pancreatic neuroendocrine tumors (PNETs) in VHL disease ranges from 9% to 17% and is characterized by a better prognosis compared with sporadic PNETs. Several risk factors for PNET metastasis in VHL disease have been reported but have not been validated. We conducted a prospective study (NCT00062166) to evaluate the natural history of VHL disease–associated pancreatic lesions to determine what factors were associated with PNET phenotype and prognosis.
JAMA Oncology , résumé, 2016