Multiple endocrine neoplasia type 1: clinical and genetic features

Multiple endocrine neoplasia type 1 has intrigued clinicians since its desc ription because of its rarity and complex presentation of tumours in dispar ate 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 disea se in others, has been frustrating as we strive to develop low-morbidity sc hemes for the prevention of the lethal manifestations of the syndrome. The recent description of the genetic abnormality responsible for the disease i n 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 foun d to not carry the genetic abnormality In fact, there is great promise in t his discovery, as it may shed light on significant aspects of neuroendocrin e oncogenesis. In spite of this, the clinical management strategies for the se families will require further focused attention, in order to develop rat ional, prospective studies to answer the many questions that remain.