1st Department of Surgery, Medical School, University of Athens, Athens, Greece.
World J Surg Oncol. 2011 Jan 25;9:6. doi: 10.1186/1477-7819-9-6.
The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%. In the literature data only unilateral development of ACCs in MEN1 patients has been reported. We report a 31 years-old female MEN1-patient, in whom hyperplasia of the parathyroid glands, prolactinoma, non functioning pancreatic endocrine carcinoma and functioning bilateral adrenal carcinomas were diagnosed. Interestingly, a not previously described in the literature data, novel germline mutation (p.E45V) in exon 2 of MEN1 gene, was detected. The association of exon 2 mutation of the MEN1 gene with bilateral adrenal carcinomas in MEN1 syndrome, should be further investigated.
MEN1 综合征中肾上腺受累的发生率为 9%至 45%，而 MEN1 患者的肾上腺皮质癌（ACC）发生率为 2.6%至 6%。文献资料中仅报道了 MEN1 患者单侧 ACC 的发生。我们报告了一例 31 岁的女性 MEN1 患者，该患者被诊断出甲状旁腺增生、泌乳素瘤、无功能性胰腺内分泌癌和功能性双侧肾上腺癌。有趣的是，我们在该患者中检测到了 MEN1 基因外显子 2 中一种以前未在文献中描述过的新型种系突变（p.E45V）。MEN1 基因外显子 2 突变与 MEN1 综合征中双侧肾上腺癌的关联，需要进一步研究。
