The American journal of gastroenterology · 2006
Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Elli Luca, Buscarini Elisabetta, Portugalli Vanessa, Reduzzi Luigi, Reduzzi Chiara, Brambilla Gianfranco, Menozzi Fernanda, Bardella Maria Teresa, Piodi Luca P, Caldato Maja, Zambelli Alessandro
Аннотация
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.
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.