Sugiura H, Morikawa T, Itoh K, Ono K, Okushiba S, Kondo S, Kato H
Second Department of Surgery, Hokkaido University Hospital, N-14, W-5, Sapporo 060-8648, Japan.
Surg Today. 2001;31(5):428-32. doi: 10.1007/s005950170134.
We report herein the rare case of a 33-year-old man found to have a multiple endocrine neoplasia type 1 (MEN1)-associated carcinoid tumor in the thymus. A chest roentgenogram demonstrated an asymptomatic anterior mediastinal mass, 7 cm in diameter, and ultrasound-guided percutaneous Tru-Cut biopsy revealed a carcinoid tumor of the thymus. An extended thymectomy was performed through a median sternotomy and pathological examination confirmed the diagnosis of a thymic carcinoid tumor, which was mainly encapsulated with locally invasive growth into the pleura. Despite the absence of a family history of MEN1, he was treated for two pancreatic islet cell tumors, hyperparathyroidism, an adrenal tumor, and a retroperitoneal lipoma. MEN1 mutations were detected both in blood samples and pancreatic tumor tissues. He is now well without any evidence of tumor recurrence 27 months after the operation for the thymic carcinoid. MEN1 mutations were screened by direct nucleotide sequencing of all protein-coding regions of exons 2-10 of the MEN1 gene. Heterozygous germline mutation was detected in the blood sample analyses. Moreover, fresh-frozen pancreatic tumor tissues showed a loss of heterozygosity in the MEN1 region.
我们在此报告一例罕见病例,一名33岁男性被发现患有与1型多发性内分泌肿瘤(MEN1)相关的胸腺类癌。胸部X线片显示一个直径7厘米的无症状前纵隔肿块,超声引导下经皮切割活检显示为胸腺类癌。通过正中胸骨切开术进行了扩大胸腺切除术,病理检查确诊为胸腺类癌,主要为包膜包裹,局部侵犯胸膜。尽管没有MEN1家族病史,但他接受了两种胰岛细胞瘤、甲状旁腺功能亢进、肾上腺肿瘤和腹膜后脂肪瘤的治疗。在血液样本和胰腺肿瘤组织中均检测到MEN1突变。胸腺类癌手术后27个月,他目前状况良好,没有任何肿瘤复发的迹象。通过对MEN1基因外显子2-10的所有蛋白质编码区域进行直接核苷酸测序来筛选MEN1突变。在血液样本分析中检测到杂合子种系突变。此外,新鲜冷冻的胰腺肿瘤组织在MEN1区域显示杂合性缺失。