TY - JOUR
T1 - Pancreatic involvement in Von Hippel-Lindau disease
T2 - Report of two cases and review of the literature
AU - Elli, Luca
AU - Buscarini, Elisabetta
AU - Portugalli, Vanessa
AU - Reduzzi, Luigi
AU - Reduzzi, Chiara
AU - Brambilla, Gianfranco
AU - Menozzi, Fernanda
AU - Bardella, Maria Teresa
AU - Piodi, Luca P.
AU - Caldato, Maja
AU - Zambelli, Alessandro
PY - 2006/11
Y1 - 2006/11
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1572-0241.2006.00737.x
DO - 10.1111/j.1572-0241.2006.00737.x
M3 - Article
C2 - 16952288
AN - SCOPUS:33750514168
VL - 101
SP - 2655
EP - 2658
JO - American Journal of Gastroenterology
JF - American Journal of Gastroenterology
SN - 0002-9270
IS - 11
ER -