Waldmann J, Bartsch D K, Kann P H, Fendrich V, Rothmund M, Langer P
Department of General Surgery, Philipps-University, Marburg, Germany.
Langenbecks Arch Surg. 2007 Jul;392(4):437-43. doi: 10.1007/s00423-006-0124-7. Epub 2007 Jan 19.
Adrenal tumors are a common manifestation of the multiple endocrine neoplasia type 1 (MEN-1) syndrome. Prevalence in recent studies varies between 9 and 45%. A genotype-phenotype correlation has been described as well as the development of adrenocortical carcinomas. Long-term prospective data are still lacking.
Thirty-eight MEN-1 patients with proven germline mutations have been prospectively observed in a regular screening program in our hospital. Adrenal glands have been screened by biochemical analysis and either by endoscopic ultrasound (EUS) or computed tomography (CT) or both. Median follow-up was 48 months (12-108 months). Age at diagnosis of MEN-1, type of adrenal tumor, genotype, therapy, and clinical characteristics have been analyzed.
In 21 (55%) patients, adrenal involvement of the disease was detected. Adrenal lesions were detected in average 6.9 years after the initial diagnosis of MEN-1. Median tumor size was 12 mm (5-40 mm). Tumor size smaller than 10 mm was observed in 11 patients. Twelve patients had unilateral while nine had bilateral adrenal lesions. EUS detected all adrenal tumors, whereas CT failed in seven cases. In three patients, functioning tumors (one pheochromocytoma, one bilateral Cushing adenoma, and one adrenocortical carcinoma) and one nonfunctioning adenoma were diagnosed by histology and biochemical assessment. Two laparoscopic adrenalectomies and one laparoscopic subtotal resection were performed. Nonfunctioning adrenal lesions, not characterized by histology yet, were found in 18 patients. There was no statistical difference with regard to adrenal involvement between patients with germline mutations in exons 2 and 10 (12/21) and those with mutations in exons 3-9 (6/11).
MEN-1-associated adrenal tumors are mostly small, benign, and nonfunctioning and much more common than previously reported. EUS was the most sensitive imaging procedure. The genotype-pheotype correlation previously suggested by our group could not be confirmed.
肾上腺肿瘤是多发性内分泌腺瘤1型（MEN-1）综合征的常见表现。近期研究中的患病率在9%至45%之间。已经描述了基因型与表型的相关性以及肾上腺皮质癌的发生情况。仍缺乏长期前瞻性数据。
在我院的一项定期筛查项目中，对38例经证实存在种系突变的MEN-1患者进行了前瞻性观察。通过生化分析以及内镜超声（EUS）或计算机断层扫描（CT）或两者对肾上腺进行筛查。中位随访时间为48个月（12 - 108个月）。分析了MEN-1诊断时的年龄、肾上腺肿瘤类型、基因型、治疗方法及临床特征。
21例（55%）患者检测到肾上腺受累。肾上腺病变在MEN-1首次诊断后平均6.9年被检测到。肿瘤中位大小为12 mm（5 - 40 mm）。11例患者肿瘤大小小于10 mm。12例患者为单侧肾上腺病变，9例为双侧。EUS检测到了所有肾上腺肿瘤，而CT有7例未检测到。通过组织学和生化评估诊断出3例功能性肿瘤（1例嗜铬细胞瘤、1例双侧库欣腺瘤和1例肾上腺皮质癌）和1例无功能腺瘤。进行了2例腹腔镜肾上腺切除术和1例腹腔镜次全切除术。18例患者发现了尚未进行组织学特征描述的无功能肾上腺病变。外显子2和10存在种系突变的患者（12/21）与外显子3 - 9存在突变的患者（6/11）在肾上腺受累方面无统计学差异。
MEN-1相关的肾上腺肿瘤大多体积小、良性且无功能，比之前报道的更为常见。EUS是最敏感的影像学检查方法。我们团队之前提出的基因型与表型的相关性未得到证实。
