hrp0084fc5.2 | Endocrine Oncology/Turner | ESPE2015

MEN1 Syndrome Because of Combined Germline and Somatic Mosaicism, with Important Consequences for Relatives

Kempers Marlies , Stikkelbroeck Nike , Mensenkamp Arjen , Pfundt Rolph , van der Luijt Rob , Timmers Henri , Claahsen Hedi , Hoogerbrugge Nicoline , Hermus Ad

Background: Multiple endocrine neoplasia type I (MEN1) is characterized by the combined occurrence of tumours in several endocrine tissues such as parathyroid tumours, pituitary tumours (usually prolactinomas) and pancreatic neuroendocrine tumours. MEN1 is an autosomal dominant disorder caused by germline mutations in the tumour suppressor gene MEN1. First-degree relatives of a germline MEN1 mutation carrier have a 50% risk of the mutation. Intensive surveillance of g...