caa a22 4500 445330678 CHVBK 20180317142736.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s10689-010-9398-6 doi (NATIONALLICENCE)springer-10.1007/s10689-010-9398-6 Care for patients with multiple endocrine neoplasia type 1: the current evidence base [Elektronische Daten] [C. Pieterman, M. Vriens, K. Dreijerink, R. van der Luijt, G. Valk] Multiple endocrine neoplasia type 1 (MEN1) is a rare disease caused by mutations in the MEN1 gene on chromosome 11. It is characterized by the occurrence of primary hyperparathyroidism (pHPT), duodenopancreatic neuroendocrine tumours (pNET), pituitary tumours (PIT), adrenal adenomas (ADR) and neuroendocrine tumours (NET) of the stomach, bronchus and thymus. MEN1 is a syndrome with high penetrance and high morbidity. Malignant NETs are the most important cause of MEN1-related death. Since 1997 the diagnosis can be made by genetic screening. MEN1 is a complex syndrome and the endocrine manifestations cannot be viewed upon as coinciding sporadic tumours. Differences in epidemiology and pathology between MEN1-related tumours and their sporadic counterparts show that a unique approach is needed. Therefore the care for MEN1 patients should be provided by a centre of expertise. Early genetic diagnosis and periodic screening are important pillars of care. For primary hyperparathyroidism surgery is the most important treatment modality, with a subtotal parathyroid gland resection as the procedure of choice. In neuroendocrine tumours surgery also is the most important treatment modality. Selective tumour enucleation has no place in the surgical treatment of MEN1-related pNETs; the exact procedure depends on the functionality of the tumour. In MEN1-associated pituitary and adrenal adenomas, watchful waiting and medical therapy play more important roles. In the twenty-first century new developments will impact the care for MEN1 patients. These developments should be critically evaluated in clinical research with the ultimate goal of optimizing the care for MEN1 patients on an evidence base. Springer Science+Business Media B.V., 2010 Adrenal adenomas nationallicence Follow-up nationallicence Multiple endocrine neoplasia type 1 nationallicence Neuroendocrine tumours nationallicence Outcome nationallicence Pituitary tumours nationallicence Prevention nationallicence Primary hyperparathyroidism nationallicence Screening nationallicence Treatment nationallicence 5-HIAA : 5-Hydroxyindolacetic acid nationallicence ADR : Adrenal adenoma nationallicence AIP : Aryl hydrocarbon receptor-interacting protein nationallicence CDK : Cyclin-dependent kinase nationallicence CDKN : Cyclin-dependent kinase inhibitor nationallicence CgA : Chromogranin A nationallicence CT : Computed tomography nationallicence DHEAS : Dehydroepiandrosterone sulphate nationallicence DNA : Deoxyribonucleic acid nationallicence DPR : Distal pancreatic resection nationallicence ECL : Enterochromaffin-like nationallicence EUS : Endoscopic ultrasound nationallicence IGF-1 : Insulin-like growth factor 1 nationallicence LOH : Loss of heterozygosity nationallicence MEN1 : Multiple endocrine neoplasia type 1 nationallicence MEN2 : Multiple endocrine neoplasia type 2 nationallicence MLPA : Multiplex ligation-dependent probe amplification nationallicence MRI : Magnetic resonance imaging nationallicence mTOR : Mammalian target of rapamycin nationallicence NET : Neuroendocrine tumour nationallicence NF : Non-functioning nationallicence PET : Positron emission tomography nationallicence pHPT : Primary hyperparathyroidism nationallicence PIT : Pituitary tumour nationallicence pNET : Duodenopancreatic neuroendocrine tumour nationallicence PTH : Parathyroid hormone nationallicence SF-36 : Short form 36 nationallicence SRS : Somatostatin receptor scintigraphy nationallicence TCT : Transcervical thymectomy nationallicence ZES : Zollinger-Ellison syndrome nationallicence Pieterman C. Department of Internal Medicine, University Medical Centre Utrecht, Hpnr. L.00.408, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut Vriens M. Department of Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands aut Dreijerink K. Department of Internal Medicine, University Medical Centre Utrecht, Hpnr. L.00.408, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut van der Luijt R. Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands aut Valk G. Department of Internal Medicine, University Medical Centre Utrecht, Hpnr. L.00.408, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut Familial Cancer Springer Netherlands 10/1(2011-03-01), 157-171 1389-9600 10:1<157 2011 10 10689 https://doi.org/10.1007/s10689-010-9398-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-010-9398-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Pieterman C. Department of Internal Medicine, University Medical Centre Utrecht, Hpnr. L.00.408, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Vriens M. Department of Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Dreijerink K. Department of Internal Medicine, University Medical Centre Utrecht, Hpnr. L.00.408, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- van der Luijt R. Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Valk G. Department of Internal Medicine, University Medical Centre Utrecht, Hpnr. L.00.408, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/1(2011-03-01), 157-171 1389-9600 10:1<157 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer