Multiple endocrine neoplasia type 1: clinical and genetic features.

Abstract

Multiple endocrine neoplasia type 1 has intrigued clinicians since its description because of its rarity and complex presentation of tumours in disparate endocrine organs. Its unpredictable course has made the development of strategies for clinical management difficult. The frequently indolent course in some family members, punctuated by lethal, aggressively malignant disease in others, has been frustrating as we strive to develop low-morbidity schemes for the prevention of the lethal manifestations of the syndrome. The recent description of the genetic abnormality responsible for the disease in many, if not all, families, will be of great assistance, even if it only allows the cessation of diagnostic testing for kindred members who are found to not carry the genetic abnormality. In fact, there is great promise in this discovery, as it may shed light on significant aspects of neuroendocrine oncogenesis. In spite of this, the clinical management strategies for these families will require further focused attention, in order to develop rational, prospective studies to answer the many questions that remain.