Pancreatic lesions in von Hippel-Lindau disease: prevalence, clinical significance, and CT findings.

Guidelines for the management of gastroenteropancreatic neuroendocrine tumours (including bronchopulmonary and thymic neoplasms) Part I—General Overview

“…The VHL gene was mapped to chromosome 3p25.3 and identified by positional cloning. This gene is a tumour suppressor gene, implying that loss of function or inactivating mutations of this gene are associated with tumour formation (8,9).…”

Genetic analysis of von Hippel-Lindau disease

“…VHL patients can develop hemangioblastomas of the central nervous system (CNS) and/or retina, clear cell renal cell carcinomas (RCC), endocrine neoplasia of the adrenal gland (pheochromocytoma), low-grade adenocarcinomas of the temporal bone, also known as endolymphatic sac tumors (ELST), epididymal or broad ligament cystadenomas, and/or pancreatic tumors [Gruber et al, 1980;Kaelin, 2007;Maher, 2004;Neumann and Wiestler, 1991]. In addition to the inherited risk for developing cancer, VHL patients develop cystic disease in various organs including the kidney, pancreas, and liver [Hough et al, 1994;Lubensky et al, 1998;Maher et al, 1990b;Maher, 2004]. The morbidity of VHL disease depends on the particular organ system involved.…”

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“…Entretanto, a prevalência reportada oscila entre 3% e 93% 13 . Os tumores neuroendócrinos das ilhotas representam carcinomas que aparecem de maneira independente à doença cística do pâncreas 2, 13 . O diagnóstico presuntivo realiza-se mediante estudos de imagem, nos quais, caracteristicamente, aparecem como lesões sólidas que se intensificam nas fases com contraste [1][2][3][4]9,20,21,29 (Figura 6).…”