[Hereditary multiple endocrine neoplasia. New genetic data and clinical applications in type 1 multiple endocrine...

Multiple endocrine neoplasia (MEN) is a group of characteristic affections involving benign or malignant secreting tumours of several endocrine glands. Recent progress in genetic mapping has led to the precise localization of the genes causing these familial diseases. This technique provides new means of diagnosis greatly improving conventional diagnostic methods. In type 1 MEN, laboratory tests are directed to identifying the target gland and its effect on hormone status. Imaging techniques including echography, CT scan, magnetic resonance imaging, echoendoscopy and scintigraphy add further information. The molecular genetics approach is an indirect one based on a family study. Blood samples must be obtained from at least two certain probands and at least two healthy members of the family. By mapping the genes with precise genetic probes, the morbid haplotype could be identified and used to predict the risk of morbidity in the descendance. The GENEM 1 (Groupe d'Etudes sur les Néoplasies endocriniennes multiples de type 1) is a multidisciplinary collaboration between endocrine surgeons, endocrinologists, gastroenterologists, geneticians, pathologists and biologists working towards identifying the causal gene and better understand the pathophysiology of these tumours. We are undoubtedly on the threshold of this discovery which could help improve the diagnosis of this generally poorly recognized disease with an underestimated prevalence.