The phenotype of SDHB germline mutation carriers
| العنوان: | The phenotype of SDHB germline mutation carriers |
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| المؤلفون: | Johannes A. Rijken, Henricus P. M. Kunst, C. René Leemans, Michiel N. Kerstens, Eleonora P M Corssmit, Alberto M. Pereira, Peter H. Bisschop, Anouk N A van der Horst-Schrivers, Erik F. Hensen, Marieke F. van Dooren, Henri J L M Timmers, Jeroen C. Jansen, Koen M.A. Dreijerink, Karin Eijkelenkamp, Carli M. J. Tops, Frederik J. Hes, Nicolasine D. Niemeijer, Jean-Pierre Bayley, Anouk van Berkel |
| المساهمون: | Clinical Genetics, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Medical Genetics, Otolaryngology / Head & Neck Surgery, CCA - Cancer biology and immunology, APH - Quality of Care, Amsterdam Gastroenterology Endocrinology Metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, AMS - Amsterdam Movement Sciences, Endocrinology |
| المصدر: | European Journal of Endocrinology, 177(2), 115-125. Bioscientifica Ltd European Journal of Endocrinology, 177, 115-125 European Journal of Endocrinology, 177(2), 115-125. BIOSCIENTIFICA LTD European Journal of Endocrinology, 177(2), 115-125. BioScientifica Ltd. European Journal of Endocrinology, 177(2), 115-125 European Journal of Endocrinology, 177, 2, pp. 115-125 Niemeijer, N D, Rijken, J A, Eijkelenkamp, K, Van Der Horst-Schrivers, A N A, Kerstens, M N, Tops, C M J, Van Berkel, A, Timmers, H J L M, Kunst, H P M, Leemans, C R, Bisschop, P H, Dreijerink, K M A, Van Dooren, M F, Bayley, J P, Pereira, A M, Jansen, J C, Hes, F J, Hensen, E F & Corssmit, E P M 2017, ' The phenotype of SDHB germline mutation carriers : A nationwide study ', European Journal of Endocrinology, vol. 177, no. 2, pp. 115-125 . https://doi.org/10.1530/EJE-17-0074Test European journal of endocrinology / European Federation of Endocrine Societies, 177(2), 115-125. BioScientifica Ltd. |
| بيانات النشر: | BIOSCIENTIFICA LTD, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | Male, PHEOCHROMOCYTOMA, SDHB, Adrenal Gland Neoplasms/diagnosis, Endocrinology, Diabetes and Metabolism, NETHERLANDS, CLINICAL-MANIFESTATIONS, medicine.disease_cause, Germ-Line Mutation/genetics, 0302 clinical medicine, Endocrinology, Renal cell carcinoma, Paraganglioma, Stromal tumor, Child, Medicine(all), Mutation, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], General Medicine, Middle Aged, Phenotype, PARAGANGLIOMA, 030220 oncology & carcinogenesis, Cohort studies, young adult, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Pheochromocytoma/diagnosis, Adult, medicine.medical_specialty, Heterozygote, Adolescent, GENETICS, 030209 endocrinology & metabolism, Netherlands/epidemiology, Pheochromocytoma, 03 medical and health sciences, Germline mutation, Succinate Dehydrogenase/genetics, Internal medicine, Paraganglioma/diagnosis, medicine, Humans, Aged, Retrospective Studies, business.industry, Retrospective cohort study, medicine.disease, Head and Neck Neoplasms/diagnosis, business, Follow-Up Studies |
| الوصف: | Objective Succinate dehydrogenase B subunit (SDHB) gene germline mutations predispose to pheochromocytomas, sympathetic paragangliomas, head and neck paragangliomas and non-paraganglionic tumors (e.g. renal cell carcinoma, gastrointestinal stromal tumor and pituitary neoplasia). The aim of this study was to determine phenotypical characteristics of a large Dutch cohort of SDHB germline mutation carriers and assess differences in clinical phenotypes related to specific SDHB mutations. Design Retrospective descriptive study. Methods Retrospective descriptive study in seven academic centers. Results We included 194 SDHB mutation carriers consisting 65 (33.5%) index patients and 129 (66.5%) relatives. Mean age was 44.8 ± 16.0 years. Median duration of follow-up was 2.6 years (range: 0–36). Sixty persons (30.9%) carried the exon 3 deletion and 46 (23.7%) the c.423 + 1G > A mutation. Fifty-four mutation carriers (27.8%) had one or multiple head and neck paragangliomas, 4 (2.1%) had a pheochromocytoma and 26 (13.4%) had one or more sympathetic paragangliomas. Fifteen patients (7.7%) developed metastatic paraganglioma and 17 (8.8%) developed non-paraganglionic tumors. At study close, there were 111 (57.2%) unaffected mutation carriers. Statistical analyses showed no significant differences in the number and location of head and neck paragangliomas, sympathetic paragangliomas or pheochromocytomas, nor in the occurrence of metastatic disease or other tumors between carriers of the two founder SDHB mutations (exon 3 deletion vs c.423 + 1G > A). Conclusions In this nationwide study of disease-affected and unaffected SDHB mutation carriers, we observed a lower rate of metastatic disease and a relatively high number of head and neck paragangliomas compared with previously reported referral-based cohorts. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1479-683X 0804-4643 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c4950e19d5c9160824f74b98133b9aTest https://doi.org/10.1530/EJE-17-0074Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....22c4950e19d5c9160824f74b98133b9a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1479683X 08044643 |
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