Cavalli Tiziana, Giudici Francesco, Santi Raffaella, Nesi Gabriella, Brandi Maria Luisa, Tonelli Francesco
Department of Surgery and Translational Medicine, University of Florence, Largo Brambilla 3, 50139, Florence, Italy.
Fam Cancer. 2016 Oct;15(4):645-9. doi: 10.1007/s10689-016-9906-4.
Sporadic VIPoma is an exceedingly rare tumor with an annual incidence of 1:10 million people worldwide, yet it is described in approximately 5 % of MEN1 patients. The majority of VIPomas are malignant and radical surgery is the best therapeutic option. A 58-year-old man presented with cardiocirculatory arrest due to ventricular fibrillation. The patient had a 3-month history of epigastric pain with diarrhea. After reanimation, laboratory data revealed severe hypokalemia and hypercalcemia. Further investigations showed hyperparathyroidism, left adrenal adenoma and pituitary microprolactinoma and genetic diagnosis of MEN1 syndrome was made. Abdominal computed tomography revealed a 45 × 30 mm mass of the pancreatic head and two hepatic lesions, which proved to be neuroendocrine after 68 Ga PET and needle biopsy. Vasoactive intestinal peptide (VIP) serum level had increased. Subsequently the patient underwent pylorus-preserving pancreaticoduodenectomy and hepatic resection. Intraoperative VIP returned to normal values. Histopathology confirmed a pancreatic VIPoma metastatic to the liver. The postoperative course was unremarkable and the patient is well with no evidence of disease at a 48 months follow-up. Even in case of anusual presentation, when two or more main clinical findings of MEN1 related tumors are present, unrespectively to the presence of MEN1 mutation, MEN1 syndrome should be suspected. Surgery in MEN1 pancreatic neuroendocrine tumors is indicated both to treat symptoms and to avoid oncological progression even in advanced cases.
散发性血管活性肠肽瘤是一种极其罕见的肿瘤,全球年发病率为1:1000万人,但在约5%的多发性内分泌腺瘤1型(MEN1)患者中有所描述。大多数血管活性肠肽瘤是恶性的,根治性手术是最佳治疗选择。一名58岁男性因室颤出现心循环骤停。该患者有3个月的上腹痛伴腹泻病史。复苏后,实验室数据显示严重低钾血症和高钙血症。进一步检查发现甲状旁腺功能亢进、左肾上腺腺瘤和垂体微泌乳素瘤,并做出了MEN1综合征的基因诊断。腹部计算机断层扫描显示胰头有一个45×30mm的肿块和两个肝脏病变,经68Ga正电子发射断层扫描(PET)和穿刺活检后证实为神经内分泌肿瘤。血管活性肠肽(VIP)血清水平升高。随后患者接受了保留幽门的胰十二指肠切除术和肝切除术。术中VIP恢复到正常水平。组织病理学证实为胰腺血管活性肠肽瘤转移至肝脏。术后病程平稳,在48个月的随访中患者情况良好,无疾病迹象。即使临床表现不寻常,当出现两个或更多与MEN1相关肿瘤的主要临床发现时,无论是否存在MEN1突变,都应怀疑MEN1综合征。对于MEN1胰腺神经内分泌肿瘤,即使在晚期病例中,手术治疗既是为了缓解症状,也是为了避免肿瘤进展。