Authors: Elli, Luca; Buscarini, Elisabetta¹; Portugalli, Vanessa²; Reduzzi, Luigi²; Reduzzi, Chiara²; Brambilla, Gianfranco¹; Menozzi, Fernanda¹; Bardella, Maria Teresa³; Piodi, Luca P.⁴; Caldato, Maja³; Zambelli, Alessandro¹

Source: The American Journal of Gastroenterology, Volume 101, Number 11, November 2006 , pp. 2655-2658(4)

Publisher: Wiley-Blackwell

Abstract:

BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominant multicancer syndrome caused by the germline mutation of a tumor suppressor gene. Affected individuals develop benign and malignant tumors of the central nervous system, kidneys, adrenal glands, pancreas, and reproductive system. Although VHL disease is mainly diagnosed after the detection of central nervous system tumors, they may not always be the first presentation.

CASE REPORT: We report the case of a patient presenting with pancreatic cysts for whom the final genetic diagnosis of VHL disease was formulated. During management, the use of endoscopic ultrasonography (EUS) proved to be valid in the characterization of the pancreatic lesions. Family screening also revealed the genetic mutation in the patient's son and imaging investigations showed the presence of multiple tumors. The diagnosis allowed us to plan appropriate follow-up for both, thus improving their life expectancy.

CONCLUSIONS: Gastroenterologists should be aware of the frequent pancreatic involvement in VHL disease and EUS can be useful in this setting.

(Am J Gastroenterol 2006;101:2655-2658)

Document Type: Research article

DOI: http://dx.doi.org/10.1111/j.1572-0241.2006.00737.x

Affiliations: 1: Gastroenterology Department 2: Radiology Department, Ospedale Maggiore di Crema, Crema, Italy 3: Centre for the Prevention and Diagnosis of Coeliac Disease 4: Internal Medicine III, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy

Publication date: 2006-11-01

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• By this author: Elli, Luca ;  Buscarini, Elisabetta ;  Portugalli, Vanessa ;  Reduzzi, Luigi ;  Reduzzi, Chiara ;  Brambilla, Gianfranco ;  Menozzi, Fernanda ;  Bardella, Maria Teresa ;  Piodi, Luca P. ;  Caldato, Maja ;  Zambelli, Alessandro

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