以腸阻塞表現的第二型多發性內分泌腫瘤-病例報告

楊立宇、楊晨洸、裘坤元

台中榮民總醫院 泌尿部

MEN Type II present with intestinal obstruction – a case report

Li-Yu Yang, Cheng-Kuang Yang, Kun-Yuan Chiu

Department of Urology, Taichung Veterans General Hospital, Taiwan

Background: Multiple endocrine neoplasia type II (MEN2) is an autosomal dominant hereditary cancer syndrome, which major components of medullary thyroid carcinoma(MTC), pheochromocytoma, and hyperparathyroidism. Gangliomatosis of the gastrointestinal tract and its complications may also happen in patients with the subtype of MEN2. 

Case Presentation: 

A 37-year-old man suffered from progressive left abdominal pain for days, severe ileus and intestinal obstruction were impressed initially. Hypoactive bowel sound and mild periumbilical tenderness were noted. Abdominal computed tomography(CT) showed diffuse bowel dilatation, suspect descending colon cancer with rupture and bilateral adrenal mass with central necrosis. Loop colostomy was performed for symptom relieve. Tumor marker showed mild elevated level of CEA(7.97ng/ml (< 5.0 ng/ml). Subsequently, colonoscopy showed no intraluminal lesions, however. Endocrine survey showed elevated level of Vanillyle-mandelic-acid(VMA): 18.84 mg/24hr (normal, 1 to 7.5 mg/24hr), Epinephrine: 195.2 ug/24hr (normal, < 27 ug/24hr), and Norepinephrine: 109 ug/24hr (normal, < 97 ug/24hr). CT-guided biopsy confirmed bilateral pheochromocytoma. Not only left laparoscopic total adrenalectomy and right open adrenalectomy were done but also left hemicolectomy was also performed due to severe adhesion over descending colon and abdomen wall. Surgical pathology disclosed bilateral pheochromocytoma and diffuse intestinal ganglioneuromatosis over descending colon. The serum calcitonin level was 345.0 pg/mL (normal, 0 to 18.1 pg/dL). Due to suspect MEN2B, the mutation in the RET proto-oncogene of genomic DNA testing would be performed. Further total thyroidectomy and bilateral comprehensive neck dissection were suggested.