Impact of Delay in Diagnosis in Outcomes in MEN1: Results From the Dutch MEN1 Study Group
| العنوان: | Impact of Delay in Diagnosis in Outcomes in MEN1: Results From the Dutch MEN1 Study Group |
|---|---|
| المؤلفون: | Ad R. M. M. Hermus, Gerlof D. Valk, Joanne M. de Laat, Wouter W. de Herder, Madeleine L. Drent, Carolina R. C. Pieterman, Menno R. Vriens, Olaf M. Dekkers, Peter H. Bisschop, Anouk N A van der Horst-Schrivers, Bas Havekes, Bernadette P M van Nesselrooij, Rachel S van Leeuwaarde |
| المساهمون: | Clinical Neuropsychology, IBBA, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Movement Sciences, Endocrinology, Internal Medicine, Interne Geneeskunde, MUMC+: MA Endocrinologie (9), RS: NUTRIM - R1 - Metabolic Syndrome, Internal medicine, Guided Treatment in Optimal Selected Cancer Patients (GUTS) |
| المصدر: | Journal of Clinical Endocrinology and Metabolism, 101, 3, pp. 1159-65 Journal of Clinical Endocrinology and Metabolism, 101(3), 1159-65. Oxford University Press Journal of Clinical Endocrinology and Metabolism, 101, 1159-65 Van Leeuwaarde, R S, Van Nesselrooij, B P M, 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, De Laat, J M, Pieterman, C R C & Valk, G D 2016, ' Impact of delay in diagnosis in outcomes in MEN1 : Results from the Dutch MEN1 study group ', Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 3, pp. 1159-1165 . https://doi.org/10.1210/jc.2015-3766Test Journal of clinical endocrinology and metabolism, 101(3), 1159-1165. The Endocrine Society Journal of Clinical Endocrinology and Metabolism, 101(3), 1159. The Endocrine Society Journal of Clinical Endocrinology and Metabolism, 101(3), 1159-1165. Endocrine Society Journal of Clinical Endocrinology & Metabolism, 101(3), 1159-1165. Oxford University Press van Leeuwaarde, R S, 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, de Laat, J M, Pieterman, C R C & Valk, G D 2016, ' Impact of Delay in Diagnosis in Outcomes in MEN1 : Results From the Dutch MEN1 Study Group ', Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 3, pp. 1159-65 . https://doi.org/10.1210/jc.2015-3766Test Journal of Clinical Endocrinology and Metabolism, 101(3), 1159-1165 Journal of Clinical Endocrinology and Metabolism, 101(3), 1159-1165. The Endocrine Society Journal of Clinical Endocrinology and Metabolism, 101(3), 1159-1165. ENDOCRINE SOC |
| بيانات النشر: | Oxford University Press, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Male, Delayed Diagnosis, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], GUIDELINES, Biochemistry, 0302 clinical medicine, Endocrinology, IMPLEMENTATION, Medicine, Young adult, Non-U.S. Gov't, Child, Index case, ENDOCRINE NEOPLASIA TYPE-1, Netherlands, education.field_of_study, medicine.diagnostic_test, Research Support, Non-U.S. Gov't, Middle Aged, Prognosis, MANIFESTATIONS, 030220 oncology & carcinogenesis, Female, Cohort study, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, Adolescent, Genetic counseling, Population, 030209 endocrinology & metabolism, Research Support, 03 medical and health sciences, Young Adult, Germline mutation, SDG 3 - Good Health and Well-being, Internal medicine, Proto-Oncogene Proteins, Journal Article, Multiple Endocrine Neoplasia Type 1, Humans, Family, Genetic Testing, education, Survival analysis, Germ-Line Mutation, Genetic testing, Aged, business.industry, Biochemistry (medical), CARE, Survival Analysis, Morbidity, business, NEUROENDOCRINE TUMORS |
| الوصف: | Objective: Identifying a germline mutation in the multiple endocrine neoplasia type 1 (MEN1) gene in an index case has consequences for a whole family. Eligible family members should be offered genetic counseling and MEN1 mutation testing. Subsequently, clinical screening of mutation carriers according to the guidelines should be initiated. We assessed whether there is a lag time from MEN1 diagnosis of the index case to MEN1 diagnosis of family members. In addition, we determined whether this lag time was associated with an increased morbidity and mortality risk. Design: A cohort study was performed using the Dutch MEN1 database, including >90% of the Dutch MEN1 population >16 years of age (n = 393). Results: Fifty-eight MEN1 families were identified, of whom 57 were index cases and 247 were non-index cases (n = 304). The median lag time in MEN1 diagnosis of family members was 3.5 (range, 0–30) years. At the time of MEN1 diagnosis, 30 (12.1%) non-index cases had a duodenopancreatic neuroendocrine tumor, of whom 20% had metastases with a mean lag time of 10.9 years, in comparison with 7.1 years without metastases. Twenty-five (10.1%) non-index cases had a pituitary tumor, of whom 80% had a microadenoma and 20% had a macroadenoma, with mean lag times of 7.2 and 10.6 years, respectively. Ninety-five (38.4%) non-index cases had a primary hyperparathyroidism with a mean lag time of 9.5 years in comparison with seven patients without a primary hyperparathyroidism with a mean lag time of 3 years (P = .005). Ten non-index cases died because of a MEN1-related cause that developed during or before the lag time. Conclusion: There is a clinically relevant delay in MEN1 diagnosis in families because of a lag time between the diagnosis of an index case and the rest of the family. More emphasis should be placed on the conduct of proper counseling and genetic testing in all eligible family members. |
| وصف الملف: | image/pdf |
| اللغة: | English |
| تدمد: | 1945-7197 0021-972X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7d34e6fdb741cd3c7ff4ccd3d95b08eTest https://cris.maastrichtuniversity.nl/en/publications/b8bc352b-1c62-49c4-a3c1-6ea0a692ce93Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....e7d34e6fdb741cd3c7ff4ccd3d95b08e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19457197 0021972X |
|---|