[en] Multiple Endocrine Neoplasia type 1 (MEN 1) is an autosomal dominant syndrome characterized by neoplasia of the parathyroid glands, the endocrine pancreas and the anterior pituitary gland. Recently the identification on chromosome 11 (locus q13) of the gene responsible for MEN 1 has allowed direct genetic diagnosis of MEN 1-affected family members. To date almost 300 families have been described and genetically characterized.
The genetic etiology of most pituitary tumours remains unknown. Pituitary adenomas can develop sporadically or as a part of multiple endocrine neoplasia type 1.
In this review, the recently published data on the pathology of the MEN 1 syndrome will be summarized. The clinical, morphological and genetic aspects of sporadic and MEN 1-associated pituitary adenomas will be outlined. [fr] La Néoplasie Endocrinienne Multiple de type 1 est un syndrome génétique à transmission autosomique dominante, caractérisé par l'atteinte des pathyroïdes, du tractus gastro-entéro-pancréatique et de l'antéhypophyse. Récemment, le gène responsable de la NEM 1 a été identifié sur le chromosome 11 en région q13. Cette découverte a permis le développement de programmes de dépistage génétique chez les apparentés des patients NEM 1. À ce jour, environ 300 familles ont été décrites et ont bénéficié du diagnostic génétique.
L'étiologie des adénomes hypohysaires reste mal comprise. Les adénomes hypophysaires peuvent se présenter de façon sporadique ou appartenant à la NEM 1.
Dans cet article nous aborderons les aspects génétiques, cliniques et morphologiques concernant plus spécifiquement les adénomes hypophysaires sporadiques et appartenant à la NEM 1.
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