Hammel P R, Vilgrain V, Terris B, Penfornis A, Sauvanet A, Correas J M, Chauveau D, Balian A, Beigelman C, O'Toole D, Bernades P, Ruszniewski P, Richard S
Fédération Médico-Chirurgicale d'Hépato-Gastroentérologie, France.
Gastroenterology. 2000 Oct;119(4):1087-95. doi: 10.1053/gast.2000.18143.
BACKGROUND & AIMS: Pancreatic involvement in von Hippel-Lindau (VHL) disease, a genetic disorder with a dominant mode of inheritance affecting various organs, has rarely been studied. We assessed the prevalence, type of lesions, natural history, and impact of pancreatic involvement in patients with VHL.
A total of 158 consecutive patients from 94 families with VHL disease were studied in a prospective French collaborative study. All patients underwent systematic screening for VHL lesions, including computerized tomography (CT) scanning of the pancreas reviewed by an experienced radiologist. Clinical data, investigations, and treatments performed were also reviewed.
Pancreatic involvement was observed in 122 patients (77.2%) and included true cysts (91.1%), serous cystadenomas (12.3%), neuroendocrine tumors (12.3%), or combined lesions (11.5%). The pancreas was the only organ affected in 7.6% of patients. Patients with pancreatic lesions had fewer pheochromocytomas than those without (14/122 vs. 16/36; P<0.0001), and patients with neuroendocrine pancreatic tumors had renal involvement less often than those without (8/99 vs. 6/20; P = 0.013). None of the patients with neuroendocrine tumors had symptoms of hormonal hypersecretion. Pancreatic lesions evolved in half of patients but required specific treatment in only 10 (8.2%) when they were symptomatic or for the resection of large neuroendocrine tumors.
Pancreatic involvement is seen in most patients with VHL disease. Although symptoms are rare, specific treatment of pancreatic lesions is required in selected patients, mainly those with neuroendocrine tumors.
胰腺受累于冯·希佩尔-林道（VHL）病，这是一种具有显性遗传模式且影响多个器官的遗传性疾病，此前鲜有研究。我们评估了VHL病患者胰腺受累的患病率、病变类型、自然病程及影响。
在一项前瞻性法国协作研究中，对来自94个VHL病家族的158例连续患者进行了研究。所有患者均接受了VHL病变的系统筛查，包括由经验丰富的放射科医生对胰腺进行计算机断层扫描（CT）。还回顾了所进行的临床数据、检查及治疗情况。
122例患者（77.2%）出现胰腺受累，包括真性囊肿（91.1%）、浆液性囊腺瘤（12.3%）、神经内分泌肿瘤（12.3%）或合并病变（11.5%）。7.6%的患者胰腺是唯一受累器官。有胰腺病变的患者比无胰腺病变的患者嗜铬细胞瘤更少（14/122 vs. 16/36；P<0.0001），有胰腺神经内分泌肿瘤的患者比无该肿瘤的患者肾脏受累更少（8/99 vs. 6/20；P = 0.013）。神经内分泌肿瘤患者均无激素分泌过多的症状。半数患者的胰腺病变有进展，但仅10例（8.2%）在出现症状时或为切除大的神经内分泌肿瘤需要进行特殊治疗。
大多数VHL病患者存在胰腺受累。尽管症状罕见，但部分患者（主要是那些有神经内分泌肿瘤的患者）需要对胰腺病变进行特殊治疗。
