Background: MEN1 is an autosomal dominant disorder that is due to mutations in the tumor suppressor gene MEN1, which encodes a 610-amino acid protein, menin. MEN1 is characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The prognosis for MEN1 patients might be improved by presymptomatic tumor detection and undertaking treatment specific for MEN1 tumors.
Objective and Hypotheses: Genetics is increasingly becoming integrated into the practice of modern clinical endocrinology. This has resulted in early diagnosis of MEN1 and better understanding of its physiology and penetrance.
Method: Tumorigenesis in MEN1 occurs relatively late in life, with parathyroid adenomas, islet cell tumors, and pituitary adenomas being detected between ~20 and ~80 years of age. However, this may also be due to a relatively late stage of analysis, and current screening programs advocate evaluation to begin at ~10 years of age.
Results: Epidemiological and clinical information on the penetrance of MEN1 is derived mainly from clinical case reports of children presenting with manifestations of this disorder and from screening data within dedicated centers.
Conclusion: The presentation will be focused on the present knowledge of MEN1 tumor expression in children and adolescents. Also biochemical and radiological diagnostic guidance in the young population carrying the MEN1 gene mutation is going to be offered.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology