دورية أكاديمية
MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients
| العنوان: | MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients |
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| المؤلفون: | de Laat, Joanne M, van der Luijt, Rob B, Pieterman, Carolina R C, Oostveen, Maria P, Hermus, Ad R, Dekkers, Olaf M, de Herder, Wouter W, van der Horst-Schrivers, Anouk N, Drent, Madeleine L, Bisschop, Peter H, Havekes, Bas, Vriens, Menno R, Valk, Gerlof D |
| المصدر: | de Laat , J M , van der Luijt , R B , Pieterman , C R C , Oostveen , M P , Hermus , A R , Dekkers , O M , de Herder , W W , van der Horst-Schrivers , A N , Drent , M L , Bisschop , P H , Havekes , B , Vriens , M R & Valk , G D 2016 , ' MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients ' , BMC Medicine , vol. 14 , no. 1 , pp. 182 . https://doi.org/10.1186/s12916-016-0708-1Test |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Journal Article, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being |
| الوصف: | BACKGROUND: Multiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10-30 % of those patients have no mutation in the MEN1 gene. It is unclear if the phenotype and course of the disease of mutation-negative patients is comparable with mutation-positive patients and if these patients have true MEN1. The present study aims to describe and compare the clinical course of MEN1 mutation-negative patients with two out of the three main MEN1 manifestations and mutation-positive patients during long-term follow-up. METHODS: This is a cohort study performed using the Dutch MEN1 database, including > 90 % of the Dutch MEN1 population. RESULTS: A total of 293 (90.7 %) mutation-positive and 30 (9.3 %) mutation-negative MEN1 patients were included. Median age of developing the first main MEN1 manifestation was higher in mutation-negative patients (46 vs. 33 years) (P = 0.007). Mutation-negative patients did not develop a third main MEN1 manifestation in the course of follow-up compared to 48.3 % of mutation-positive patients (P < 0.001). Median survival in mutation-positive patients was estimated at 73.0 years (95 % CI, 69.5-76.5) compared to 87.0 years (95 % CI not available) in mutation-negative patients (P = 0.001). CONCLUSIONS: Mutation-positive and mutation-negative MEN1 patients have a different phenotype and clinical course. Mutation-negative patients develop MEN1 manifestations at higher age and have a life expectancy comparable with the general population. The apparent differences in clinical course suggest that MEN1 mutation-negative patients do not have true MEN1, but another MEN1-like syndrome or sporadic co-incidence of two neuro-endocrine tumors. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://research.vu.nl/en/publications/3190e41f-be8f-477f-86a3-95500c52c07eTest |
| DOI: | 10.1186/s12916-016-0708-1 |
| الإتاحة: | https://doi.org/10.1186/s12916-016-0708-1Test https://research.vu.nl/en/publications/3190e41f-be8f-477f-86a3-95500c52c07eTest https://hdl.handle.net/1871.1/3190e41f-be8f-477f-86a3-95500c52c07eTest |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.A777A726 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/s12916-016-0708-1 |
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