A pedigree of multiple endocrine neoplasia type 1 with the proband initially presenting adrenal cortical carcinoma

VernacularTitle:一个先证者以肾上腺皮质癌为首发的多发性内分泌腺瘤病1型家系报道
Author: Lei YE ; Wexi WANG ; Bei TAO ; Xi CHEN ; Hongyan ZHAO ; Shu WANG ; Jie HONG ; Xiaxing DENG ; Weiqing WANG ; Guang NING
Publication Type:Journal Article
Keywords: Cushing'syndrome; Adrenal cortical carcinoma; Multiple endocrine neoplasia type 1; MEN1 gene mutation
From: Chinese Journal of Endocrinology and Metabolism 2016;32(6):514-519
CountryChina
Language:Chinese
Abstract: [Summary]_ This is a pedigree of multiple endocrine neoplasia type 1(MEN1). The proband pursuit medical assistance because of hypertension and weakness. Adrenal cortical carcinoma with possible Cushing's syndrome was diagnosed after a series of tests. During this process, the proband was found to have hypercalcemia, and he was diagnosed as primary hyperparathyroidism. Adrenal carcinoma plus primary hyperparathyroidism suggested MEN1, which was confirmed by MEN1 gene 400_401insC mutation. Pedigree investigation found six additional patients, including one with high parathyroid hormone level and two without clinical evidence of any MEN1 diseases. The proband died of metastatic malignancy 7 months after diagnosis while the other 3 patients with clinically confirmed MEN1 tumor responded well to surgery, including one with adrenal cortical carcinoma.