Multipele endocriene neoplasie type I: Recente ontwikkelingen en richtlijnen voor DNA-diagnostiek en periodiek klinisch onderzoek

Multiple endocrine neoplasia type I (MEN-I) is an autosomal dominantly inherited disorder, characterised by the occurrence of multiple tumours, particularly in the parathyroid glands, the pancreatic islets, the pituitary gland, the adrenal glands, as well as neuroendocrine carcinoid tumours. Since the identification of the responsible gene in 1997, the diagnosis MEN-I can be assessed easily, and even presymptomatically, by DNA analysis. An early diagnosis is of importance because through periodic clinical monitoring of (putative) MENI gene germline mutation carriers, tumour development can be detected and treated at an early stage. Eligible for DNA analysis are MEN-I patients and their family members, as well as patients with seemingly sporadic MEN-I related tumours in whom on clinical grounds carriership of a MENI gene germline mutation is suspected. Eligible for periodic clinical monitoring are putative and confirmed carriers of a MENI germline mutation from the age of 5.