Open AccessMEN1 syndrome: an anusual case
Author(s) -
Elena Guidetti,
Monica Cevenini,
Maria Luigia Cipollini,
M. Ferrata,
Paola Tomassetti,
Roberto Corinaldesi
Publication year - 2015
Publication title -
clinical management issues
Language(s) - English
Resource type - Journals
eISSN - 2283-3137
pISSN - 1973-4832
DOI - 10.7175/cmi.v6i1s.493
Subject(s) - men1 , multiple endocrine neoplasia , medicine , carcinoid tumour , gastrinoma , hyperparathyroidism , mutation , cancer research , hyperplasia , exon , neuroendocrine tumors , tumor suppressor gene , pathology , gene , genetics , biology , gastrin , cancer , carcinogenesis , secretion
Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant endocrine disorder and is characterised by the concurrent appearance of adenomas of the parathyroid glands, neuroendocrine-enteropancreatic tumours, and pituitary adenomas, as well as other types of less frequent tumours, such as adrenal cortical tumours, carcinoid tumours, lipomas, etc. Two different forms, familial and sporadic, have been described. The gene responsible, MEN1, consists of 10 exons encoding a 610-amino acid protein known as menin. The MEN1 syndrome is caused by inactivating mutations in MEN1 tumour suppressor gene. The combination of clinical and genetic investigation helps in the diagnosis. Genetic testing has been advocated to identify MEN1 carriers of the MEN1 families for the purpose of earlier detection of tumours. We present a patient with traditionally described manifestations of MEN1 (a parathyroid hyperplasia associated with a pancreatic neuroendocrine tumour and a gastrinoma), but with a negative genetic test for the MEN1 mutation.