Multiple endocrine neoplasia type 1 and hereditary neuroendocrine tumors of the stomach, duodenum and pancreas

The predisposition for developing (neuro) endocrine tumors of the stomach, duodenum or pancreas is inherited as part of a very rare genetic disease called multiple endocrine neoplasia type 1 (MEN1). Family members who inherited the MEN1 disease gene from their parents can develop (neuro) endocrine tumors of the pituitary gland, duodenum, pancreas, stomach, thymus, bronchi, parathyroid or adrenal glands. Today a genetic test, in other words a blood test, can establish whether a child carries the mutated MEN1 gene or not. However, the patient/family should be extensively counseled and written consent must be obtained before the test is taken. If there is no mutation, the person concerned has no risk of the disease. If he/she does carry the mutation, there are now effective measures for the early detection of these tumors (see Scherübl et al., Hereditäre neuroendokrine gastro-enteropankreatische Tumoren und multiple endokrine Neoplasie Typ 1. DMW 2004; 129: 630-33 and 689-92).

Around 20%-25% of gastrinomas occur due to underlying MEN1-disease. For insulinomas the probability (of underlying MEN1) is 4-8%. The early detection of neuroendocrine gastric or duodenal tumors in MEN1 patients is achieved by endoscopy, i.e. esophagogastroduodenoscopy. The early detection of (very) small neuroendocrine tumors of the pancreas is best achieved by endoscopic ultrasound examination of the pancreas. The remaining small bowels (jejunum, ileum), the colon and rectum are generally not affected by the MEN1 disease.

Figure 3:
Determination of MEN1 mutations as basis for the counseling and monitoring of MEN1 families



modified according to Scherübl et al., DMW 2004; 129: 630-3 and 689-92

Contact

Center of Neuroendocrine Tumors
Prof. Dr. med. Hans Scherübl
Vivantes Klinikum Am Urban
Academic Teaching Hospital of Charité-University Medicine, Berlin
Dieffenbachstraße 1
10967 Berlin, Germany
Tel: + 49 30 130 225201
Fax: + 49 30 130 225205
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