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 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.
Highlights
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]
In the present report we describe a young female MEN1patient, in whom apart from the prolactine producing pituitary adenoma, the hyperplasia of the parathyroid glands and the well-differentiated non functioning pancreatic endocrine carcinoma, functioning bilateral adrenocortical carcinomas were diagnosed
A not previously described, novel germline mutation (p.E45V) in exon 2 of MEN1 gene was detected in the postoperative genetic test for MEN1
Summary
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder with penetrance reaching 100% with age [1]. After the completion of the imaging investigation and the laboratory evaluation, the diagnosis of sporadic form of MEN1 syndrome consisting of: (i) a 1.4 × 1.3 cm prolactine producing pituitary adenoma, (ii) primary hyperparathyroidism due to hyperplasia of the parathyroid glands, (iii) a 4.5 × 3.0 cm non functioning endocrine tumor in the body and tail of the pancreas and (iv) functioning bilateral adrenal tumors, was established. Based on the above findings, both tumors corresponded to adrenocortical neoplasms with malignant potential, according to Weiss’s criteria Following these results, the patient as well as her mother and her sister were submitted to genetic test for Figure 2 Histological section (H&E counterstain) of the adrenocortical neoplasm in the left adrenal gland, depicting cells with moderate to marked nuclear pleomorphism (magnification X200).
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