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Familial Cancer

Erschienen in:

01.03.2011

Care for patients with multiple endocrine neoplasia type 1: the current evidence base

verfasst von: C. R. C. Pieterman, M. R. Vriens, K. M. A. Dreijerink, R. B. van der Luijt, G. D. Valk

Erschienen in: Familial Cancer | Ausgabe 1/2011

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Abstract

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.

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Titel: Care for patients with multiple endocrine neoplasia type 1: the current evidence base
verfasst von: C. R. C. Pieterman
M. R. Vriens
K. M. A. Dreijerink
R. B. van der Luijt
G. D. Valk
Publikationsdatum: 01.03.2011
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 1/2011
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-010-9398-6

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Care for patients with multiple endocrine neoplasia type 1: the current evidence base

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