Concepts for screening and diagnostic follow-up in multiple endocrine neoplasia type 1 (MEN1)

The recent identification of MEN1 gene mutations as the molecular cause of familial multiple endocrine neoplasia type 1 syndrome (MEN1) has had a sign ificant impact on clinical patient care. In the following consensus stateme nt we will present recommendations for clinical screening and follow-up in patients and relatives with suspected or established MEN1 syndrome. MEN1 mu tational analysis should be performed in individuals with newly diagnosed M EN1-typical endocrine neoplasia (e.g., primary hyperparathyroidism, gastroe nteropancreatic tumor, pituitary adenoma) if additional diagnostic criteria are met (e.g., age <40 years; positive family history; multifocal or recur rent neoplasia; two or more organ systems affected). Genetic family screeni ng is advisable in first degree relatives of MEN1 patients during early ado lescence to reliably assess future MEN1 disease risk. In symptomatic indivi duals carrying MEN1 germ line mutations, annual clinical and biochemical (c alcium, PTH, gastrin, prolactin) follow-up as well as routine pancreatic an d pituitary imaging may be complemented as individually needed. In contrast , relatives without family-specific MEN1 mutation do not require routine fo llow-up. Diagnostic procedures and treatment in symptomatic MEN1 mutation c arriers and patients may differ from that in sporadic endocrine neoplasia, calling for individual management. Genetic counselling and dedicated endocr ine surgery should be intergral Darts of current medical care in MEN1 syndr ome.