Characteristics and management of pancreatic lesions in Von Hippel-Lindau disease: a systematic literature review
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REVIEW
Characteristics and management of pancreatic lesions in Von Hippel-Lindau disease: a systematic literature review Giuseppe Lombardi Æ F. Zustovich Æ S. Zovato Æ D. Fiore Æ A. Cappetta Æ D. Pastorelli
Received: 24 March 2009 / Accepted: 7 May 2009 / Published online: 29 May 2009 Ó Springer-Verlag 2009
Abstract Von Hippel-Lindau disease is a rare autosomal dominant inherited disorder that predisposes the occurrence of cysts and various types of cancers such as hemangioblastoma, pheochromocytoma, renal cell carcinoma and more rarely pancreatic tumors. In this review, we analyze the characteristics and management of pancreatic lesions, in particular cysts and neuroendocrine tumors, in Von Hippel-Lindau disease. Keywords
VHL NET Pancreas Tumors
Introduction and epidemiology The Von Hippel-Lindau disease is an autosomal dominant disorder that develops a variety of tumors and cysts in a variety of organs. Von Hippel-Lindau is a rare disease and its incidence is roughly one in 36,000 live births and has over 90% penetrance by 65 years of age [1]. The VHL tumor suppressor gene on chromosome 3p25-26 was identified in 1993 and encodes the VHL protein [2]. This protein bound to elongin C, elongin B, Cul2, and Rbx1, degrades a subunits of HIF 1 and 2 in an oxygen-dependent manner. The lack of degradation of this
G. Lombardi (&) F. Zustovich S. Zovato A. Cappetta D. Pastorelli Oncologia Medica 1, Istituto Oncologico Veneto IRCCS, Via Gattamelata 64, 35128 Padua, Italy e-mail: [email protected] D. Fiore Radiodiagnostica Oncologica, Istituto Oncologico Veneto IRCCS, Padua, Italy
factor caused by the absence of VHL protein results in an uncontrolled production of factors promoting the formation of blood vessels such as VEGF, PDGFb and TGFa [3, 4]. The organs affected include the adrenal glands (pheochromocytoma), the kidney (renal cell carcinoma), the central nervous system (hemangioblastoma), the eye (retinal angioma), the inner ear (endolymphatic sac tumor), the epididymis (epididymal cystoadenoma) and the pancreas [5]. Few studies have been made on pancreatic lesions in vHL disease (see Table 1) and therefore our review focused on clinical features and management of these lesions. In vHL disease the pancreas is involved from 17 to 77% of cases with cystic lesions, serous cystoadenoma and neuroendocrine tumors. Cystic lesions occurred from 27 to 71% of patients, whereas pancreatic neuroendocrine tumors (PNETs) were observed from 5 to 27%; the mean age at presentation for PNET was 35 years and for pancreatic cysts was 37 years (see Table 1); moreover, cystic lesions were benign, while PNETs can metastasize [6–8]. In the literature the mostly hit site was the pancreatic head where PNETs occurred in about 60% of the cases [7–10]. Less frequently PNETs appear in the other branches of the pancreas [7]. An important datum, emerged in our review, lays in the likely association between PNET and pheochromocitoma; especially this association were very high in Yamasaki and Corcos studies [8, 9]: 45 and 60% of p
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