Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene | Griniatsos et al. World Journal of Surgical Oncology 2011 9 6 http content 9 1 6 5 2 WORLD JOURNAL OF SURGICAL ONCOLOGY CASE REPORT Open Access Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 MEN1 and a novel mutation in the MEN1 gene 1 1 2 3 3 John E Griniatsos Nikoletta Dimitriou Athanassios Zilos Stratigoula Sakellariou Konstantinos Evangelou Smaragda Kamakari4 Penelope Korkolopoulou3 Gregory Kaltsas2 Abstract 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 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 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. Introduction Multiple endocrine neoplasia type 1 MEN1 is an autosomal dominant disorder with penetrance reaching 100 with age 1 . It is characterized by parathyroid glands hyperplasia anterior pituitary gland tumours and pancreatic islets tumours 2 . However other endocrine and non-endocrine lesions such as carcinoids of the bronchi 3 gastrointestinal tract 4 and thymus 5 lipomas angiofibromas and collagenomas 6 7 can also occur with low frequency while combinations of more than twenty different endocrine and non-endocrine tumours and lesions have been reported 8-12 . A simple definition of MEN 1 can not cover all index cases and all families. As a practical definition sporadic MEN1 is characterised by the occurrence of primary tumours involving .
