Introduction: MEN 1 is an autosomal dominant genetic disorder with a prevalence of 2-4 per 100,000. The main manifestations are parathyroid (PT), gastroenteropancreatic (GEP) and pituitary tumors, but may affect other organ systems as well. MEN 1 is associated with significant morbidity and mortality, with up to 50% dying before the age of 50. Treating MEN 1 patients presents a unique diagnostic and therapeutic challenge.
Aim(s): To present our experience with MEN 1 patients, including clinical and genetic information.
Materials and methods: Clinical data was obtained for patients followed at Hadassah Medical Center between the years 2003-2009. Genetic analysis was carried out in the laboratory of Prof. A Calender, France, and the NIH, USA, and included direct sequencing and quantitative multiplex short fragment PCR of exons 2-10 of the menin gene. Clinical diagnosis of MEN 1 was defined as the presence of at least two out of the three main manifestations of MEN 1 (PT, GEP, pituitary).
Conference: 7th Annual ENETS Conference (2010)
Presenting Author: Dr. Sameer Kassem
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