多发性内分泌肿瘤综合征影像诊断并实例分析

Image Diagnosis and Case Analysis of Multiple Endocrine Neoplasia Syndromes

目的采用多种影像学方法,探讨多发性内分泌肿瘤综合征(MEN)分型方法和影像表现。方法回顾性分析经临床、病理及基因检测确诊的8例MEN。其中MEN-1型5例,2A型、2B型及4型各1例。所有病例均有相关部位的影像学检查,CT检查包括颈胸腹部扫描(4例)、胸腹部扫描(1例)、腹部扫描(3例)。MRI检查包括垂体及上腹部扫描(2例,其中1例同时行盆腔扫描),垂体扫描(3例)。7例行甲状旁腺核素显像。分析其临床及影像学表现,探讨MEN的影像特点及诊断联系。结果 MEN表现为2个或以上内分泌腺肿瘤或增生,并引起一系列内分泌异常。(1)5例MEN-1型中,同时累及甲状旁腺、胰腺和垂体3种内分泌腺者共2例,累及垂体及胰腺1例,甲状旁腺及胰腺1例,垂体及甲状旁腺1例。(2)MEN-2A型1例表现为甲状腺髓样癌、肾上腺嗜铬细胞瘤及甲状旁腺增生(功能亢进)。(3)MEN-2B型1例表现为甲状腺髓样癌及舌黏膜神经瘤、肛周神经内分泌肿瘤。(4)MEN-4型1例表现为垂体腺瘤及甲状旁腺腺瘤,同时伴有胰腺胃泌素瘤和胸腺类癌。本例基因检测存在pD418D同义突变,无MEN1基因变异。本组8例中1例进行了7个部位的影像检查,1例检查6个部位,2例检查4个部位,3例检查3个部位,1例检查2个部位。受累的内分泌腺依次为甲状旁腺(6例)、胰腺(5例)、垂体(5例)及甲状腺(4例)。8例腹部检查同时发现胰腺和肾上腺病变4例,其中1例还发现胃泌素三角区病变。5例胸部检查同时发现甲状旁腺和胸腺病变3例。5例上腹部检查同时发现胸腰椎骨质密度明显减低。结论 MEN表现为2个或以上内分泌腺的病变,分型诊断需结合累及部位,同一扫描区域内注意观察病变之间的关联,避免漏诊。

Objective To investigate the classification and imaging findings of multiple endocrine neoplasia syndrome(MEN) using a variety of imaging methods. Methods Eight patients with MEN diagnosed by clinical, pathological and genetic tests were retrospectively analyzed. There were 5 cases of MEN-1 type, 1 case of 2 A type, 2 B type and 4 type. All cases had imaging examinations of relevant sites. CT examination included neck and chest abdomen scan(4 cases), chest and abdomen scan(1 case), and abdominal scan(3 cases). MRI examination included pituitary and upper abdomen scans(2 cases, 1 case of pelvic scan at the same time) and pituitary scan(3 cases). Seven patients underwent parathyroid nucleus imaging. Analyze its clinical and imaging findings, and explore the imaging features and diagnostic links of MEN. Results MEN showed two or more endocrine gland tumors or hyperplasia and caused a series of endocrine abnormalities.(1) In 5 cases of MEN-1 type, 2 cases of endocrine glands including parathyroid gland, pancreas and pituitary gland were involved, including 1 case of pituitary and pancreas, 1 case of parathyroid gland and pancreas, 1 case of pituitary and parathyroid gland.(2) One case of MEN-2 A type showed medullary thyroid carcinoma, adrenal pheochromocytoma and hyperparathyroidism(hyperfunction).(3) One case of MEN-2 B type showed medullary thyroid carcinoma, tongue mucosal neuroma and perianal neuroendocrine tumor.(4) One case of MEN-4 type showed pituitary adenoma and parathyroid adenoma, accompanied by pancreatic gastrinoma and thymus carcinoid. In this case, there is a synonymous mutation of pD418 D in the gene detection, and no MEN1 gene mutation. One of the 8 patients in this group underwent video examination of 7 sites, 1 patient examined 6 sites, 2 patients examined 4 sites, 3 patients examined 3 sites, and 1 patient examined 2 sites. The affected endocrine glands were parathyroid gland(6 cases), pancreas(5 cases), pituitary(5 cases) and thyroid(4 cases). Eight cases of pancreatic and adrenal lesions were found in 8 cases of abdominal examination. One of them also found gastrinoma triangle lesions. Five cases of chest examination revealed three cases of parathyroid gland and thymus lesions. Five cases of upper abdominal examination also found that the bone density of the thoracolumbar vertebra was significantly reduced. Conclusion The MEN is characterized by two or more endocrine gland lesions. The diagnostic classification needs to be combined with the affected parts. The relationship between the lesions should be observed in the same scanning area to avoid missed diagnosis.