Hammel P, Beigelman C, Chauveau D, Resche F, Bougerolles E, Flejou J F, Bernades P, Delchier J C, Richard S
Service d'Hépatologie et de Gastroentérologie, Hôpital Henri-Mondor, Créteil.
Gastroenterol Clin Biol. 1995 Dec;19(12):1011-7.
Von Hippel-Lindau's disease is a rare genetic disease, with an autosomal dominant mode of inheritance, characterised by the development of several tumours, such as haemangioblastoma of the central nervous system and retina, renal cysts or carcinoma and pheochromocytoma. Several pancreatic lesions, mainly represented by multiple cysts, are also encountered. We report here 8 cases of pancreatic involvement in patients affected with von Hippel-Lindau's disease. It consisted of multiple cysts (3 cases), serous cystadenoma (2 cases), endocrine tumour (1 case), haemangioblastoma (1 case) and ductal adenocarcinoma (1 case). Diagnosis of a rare lesion of the pancreas (multiple cysts, serous cystadenoma or vascularized tumour) in a young patient may lead to search the other lesions of von Hippel-Lindau's disease and to undergo a familial inquiry in order to propose a multidisciplinary approach for patients affected by the disease.
冯·希佩尔-林道病是一种罕见的遗传性疾病，呈常染色体显性遗传模式，其特征是会出现多种肿瘤，如中枢神经系统和视网膜的血管母细胞瘤、肾囊肿或肾癌以及嗜铬细胞瘤。还会出现一些胰腺病变，主要表现为多发性囊肿。我们在此报告8例冯·希佩尔-林道病患者的胰腺受累情况。包括多发性囊肿（3例）、浆液性囊腺瘤（2例）、内分泌肿瘤（1例）、血管母细胞瘤（1例）和导管腺癌（1例）。对于年轻患者中罕见的胰腺病变（多发性囊肿、浆液性囊腺瘤或血管化肿瘤）进行诊断时，可能需要排查冯·希佩尔-林道病的其他病变，并进行家族调查，以便为受该疾病影响的患者提供多学科治疗方案。
