المؤلفون: Eline N. M. van Vliembergen, Hidde Eijkelenkamp, Gerlof D. Valk, Menno R. Vriens, Gert J. Meijer, Martijn P. W. Intven, Joanne M. de Laat

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: pancreatic neuroendocrine tumor (pNET), multiple endocrine neoplasia type 1 (MEN1), MR-guided radiotherapy (MRgRT), MR-linac, radiosensitivity, radiotherapy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

الوصف: BackgroundSurgical resection is the standard of care for the treatment of pancreatic neuro-endocrine tumors (pNETs) in patients with Multiple Endocrine Neoplasia Type 1 (MEN1). However, surgery can cause significant short- and long-term morbidity. Magnetic resonance-guided radiotherapy (MRgRT) is a potential effective treatment with little side effects. With traditional radiotherapy techniques, irradiation of pancreatic tumors to high dose levels was hampered by poor visibility of the tumor during treatment. MRgRT uses onboard MRI to guide the treatment, thereby enabling delivery of ablative irradiation doses to the tumor, while sparing surrounding tissues. In this study, we describe results from a systematic review assessing efficacy of radiotherapy in pNET and present the protocol of the PRIME study.MethodsPubMed, Embase and Cochrane Library were searched for articles assessing efficacy and side effects of radiotherapy for the treatment of pNETs. Risk of bias was assessed using the ROBINS-I Risk of Bias Tool for observational studies. Descriptive statistics were used to describe results of included trials.ResultsFour studies comprising of 33 patients treated by conventional radiotherapy were included. Despite the heterogeneity of studies, radiotherapy appeared to be effective for the treatment of pNETs with most patients responding (45.5%) or stabilizing (42.4%) in tumor size.Conclusion and trial designDue to the limited literature available and concerns about damage to surrounding tissue, conventional radiotherapy is currently little used for pNETs. The PRIME study is a phase I-II trial with a single arm prospective cohort study design, investigating the efficacy of MRgRT in MEN1 patients with pNET. MEN1 patients with growing pNETs with a size between 1.0 and 3.0 cm without malignant features are eligible for inclusion. Patients are treated with 40 Gy in 5 fractions on the pNET, using online adaptive MRgRT on a 1.5T MR-linac. The primary endpoint is the change in tumor size at MRI 12 months follow-up. Secondary endpoints include radiotoxicity, quality of life, endocrine and exocrine pancreas function, resection rate, metastatic free and overall survival. When MRgRT is found effective with low radiotoxicity, it could reduce the need for surgery for pNET and preserve quality of life.Systematic Review RegistrationPROSPERO https://clinicaltrials.govTest/, (CRD42022325542).

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.994370/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/3eb81d2ffca14eb1aa246e4e7613d577Test

المؤلفون: Joanne M. de Laat, Rachel S. van Leeuwaarde, Gerlof D. Valk

المصدر: Frontiers in Endocrinology, Vol 9 (2018)

مصطلحات موضوعية: MEN1, diagnosis, genetic testing, epidemiology, delayed diagnosis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

الوصف: Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant inherited condition, causing significant morbidity, and a reduction of life expectancy. A timely and accurate diagnosis of MEN1 is paramount to improve disease outcomes. This enables early identification of tumor manifestations allowing timely treatment for reducing morbidity and improving survival. Current management of MEN1 poses two challenges regarding the MEN1 diagnosis: diagnostic delay and the issue of phenocopies. A delay in diagnosis can be caused by a delay in identifying the index case, and by a delay in identifying affected family members of an index case. At present, lag time between diagnosis of MEN1 in index cases and genetic testing of family members was estimated to be 3.5 years. A subsequent delay in diagnosing affected family members was demonstrated to cause potential harm. Non-index cases have been found to develop clinically relevant tumor manifestations during the lag times. Centralized care, monitoring of patients outcomes on a national level and thereby improving awareness of physicians treating MEN1 patients, will contribute to improved care. The second challenge relates to “phenocopies.” Phenocopies refers to the 5–25% of clinically diagnosed patients with MEN1in whom no mutation can be found. Up to now, the clinical diagnosis of MEN1 is defined as the simultaneous presence of at least two of the three characteristic tumors (pituitary, parathyroids, or pancreatic islets). These clinically diagnosed patients undergo intensive follow up. Recent insights, however, challenge the validity of this clinical criterion. The most common mutation-negative MEN1 phenotype is the combination of primary hyperparathyroidism and a pituitary adenoma. This phenotype might also be caused by mutations in the CDKN1B gene, causing the recently described MEN4 syndrome. Moreover, primary hyperparathyroidism and pituitary adenoma are relatively common in the general population. Limiting follow-up in patients with a sporadic co-occurrence of pHPT and PIT could reduce exposure to radiation from imaging, healthcare costs and anxiety.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fendo.2018.00533/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/6be3e3566532483aafed986bed1b39bdTest

المؤلفون: Eline N. M. van Vliembergen, Hidde Eijkelenkamp, Gerlof D. Valk, Menno R. Vriens, Gert J. Meijer, Martijn P. W. Intven, Joanne M. de Laat

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, pancreatic neuroendocrine tumor (pNET), multiple endocrine neoplasia type 1 (MEN1), MR-guided radiotherapy (MRgRT), MR-linac, radiosensitivity, radiotherapy

الوصف: Background Surgical resection is the standard of care for the treatment of pancreatic neuro-endocrine tumors (pNETs) in patients with Multiple Endocrine Neoplasia Type 1 (MEN1). However, surgery can cause significant short- and long-term morbidity. Magnetic resonance-guided radiotherapy (MRgRT) is a potential effective treatment with little side effects. With traditional radiotherapy techniques, irradiation of pancreatic tumors to high dose levels was hampered by poor visibility of the tumor during treatment. MRgRT uses onboard MRI to guide the treatment, thereby enabling delivery of ablative irradiation doses to the tumor, while sparing surrounding tissues. In this study, we describe results from a systematic review assessing efficacy of radiotherapy in pNET and present the protocol of the PRIME study. Methods PubMed, Embase and Cochrane Library were searched for articles assessing efficacy and side effects of radiotherapy for the treatment of pNETs. Risk of bias was assessed using the ROBINS-I Risk of Bias Tool for observational studies. Descriptive statistics were used to describe results of included trials. Results Four studies comprising of 33 patients treated by conventional radiotherapy were included. Despite the heterogeneity of studies, radiotherapy appeared to be effective for the treatment of pNETs with most patients responding (45.5%) or stabilizing (42.4%) in tumor size. Conclusion and trial design Due to the limited literature available and concerns about damage to surrounding tissue, conventional radiotherapy is currently little used for pNETs. The PRIME study is a phase I-II trial with a single arm prospective cohort study design, investigating the efficacy of MRgRT in MEN1 patients with pNET. MEN1 patients with growing pNETs with a size between 1.0 and 3.0 cm without malignant features are eligible for inclusion. Patients are treated with 40 Gy in 5 fractions on the pNET, using online adaptive MRgRT on a 1.5T MR-linac. The primary endpoint is the change in tumor size at MRI 12 months follow-up. ...

العلاقة: https://figshare.com/articles/figure/Image_2_Precision_radiotherapy_using_MR-linac_for_pancreatic_neuroendocrine_tumors_in_MEN1_patients_PRIME_a_protocol_for_a_phase_I-II_trial_and_systematic_review_on_available_evidence_for_radiotherapy_of_pNETs_jpeg/23209652Test

الإتاحة: https://doi.org/10.3389/fendo.2023.994370.s003Test
https://figshare.com/articles/figure/Image_2_Precision_radiotherapy_using_MR-linac_for_pancreatic_neuroendocrine_tumors_in_MEN1_patients_PRIME_a_protocol_for_a_phase_I-II_trial_and_systematic_review_on_available_evidence_for_radiotherapy_of_pNETs_jpeg/23209652Test

المؤلفون: Eline N. M. van Vliembergen, Hidde Eijkelenkamp, Gerlof D. Valk, Menno R. Vriens, Gert J. Meijer, Martijn P. W. Intven, Joanne M. de Laat

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, pancreatic neuroendocrine tumor (pNET), multiple endocrine neoplasia type 1 (MEN1), MR-guided radiotherapy (MRgRT), MR-linac, radiosensitivity, radiotherapy

الوصف: Background Surgical resection is the standard of care for the treatment of pancreatic neuro-endocrine tumors (pNETs) in patients with Multiple Endocrine Neoplasia Type 1 (MEN1). However, surgery can cause significant short- and long-term morbidity. Magnetic resonance-guided radiotherapy (MRgRT) is a potential effective treatment with little side effects. With traditional radiotherapy techniques, irradiation of pancreatic tumors to high dose levels was hampered by poor visibility of the tumor during treatment. MRgRT uses onboard MRI to guide the treatment, thereby enabling delivery of ablative irradiation doses to the tumor, while sparing surrounding tissues. In this study, we describe results from a systematic review assessing efficacy of radiotherapy in pNET and present the protocol of the PRIME study. Methods PubMed, Embase and Cochrane Library were searched for articles assessing efficacy and side effects of radiotherapy for the treatment of pNETs. Risk of bias was assessed using the ROBINS-I Risk of Bias Tool for observational studies. Descriptive statistics were used to describe results of included trials. Results Four studies comprising of 33 patients treated by conventional radiotherapy were included. Despite the heterogeneity of studies, radiotherapy appeared to be effective for the treatment of pNETs with most patients responding (45.5%) or stabilizing (42.4%) in tumor size. Conclusion and trial design Due to the limited literature available and concerns about damage to surrounding tissue, conventional radiotherapy is currently little used for pNETs. The PRIME study is a phase I-II trial with a single arm prospective cohort study design, investigating the efficacy of MRgRT in MEN1 patients with pNET. MEN1 patients with growing pNETs with a size between 1.0 and 3.0 cm without malignant features are eligible for inclusion. Patients are treated with 40 Gy in 5 fractions on the pNET, using online adaptive MRgRT on a 1.5T MR-linac. The primary endpoint is the change in tumor size at MRI 12 months follow-up. ...

العلاقة: https://figshare.com/articles/dataset/DataSheet_1_Precision_radiotherapy_using_MR-linac_for_pancreatic_neuroendocrine_tumors_in_MEN1_patients_PRIME_a_protocol_for_a_phase_I-II_trial_and_systematic_review_on_available_evidence_for_radiotherapy_of_pNETs_docx/23209646Test

الإتاحة: https://doi.org/10.3389/fendo.2023.994370.s001Test
https://figshare.com/articles/dataset/DataSheet_1_Precision_radiotherapy_using_MR-linac_for_pancreatic_neuroendocrine_tumors_in_MEN1_patients_PRIME_a_protocol_for_a_phase_I-II_trial_and_systematic_review_on_available_evidence_for_radiotherapy_of_pNETs_docx/23209646Test

المؤلفون: Peter H. Bisschop, Olaf M. Dekkers, Wieneke A. Buikhuisen, Wenzel M. Hackeng, Madeleine L. Drent, Wouter W. de Herder, Annenienke C van de Ven, Michiel N. Kerstens, Joanne M. de Laat, Lodewijk A.A. Brosens, Rachel S van Leeuwaarde, Gerlof D. Valk, Menno R. Vriens, Medard F M van den Broek, Bas Havekes

المساهمون: Interne Geneeskunde, MUMC+: MA Endocrinologie (9), RS: NUTRIM - R1 - Obesity, diabetes and cardiovascular health, Internal Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Internal medicine, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Endocrinology, AMS - Ageing & Vitality, AMS - Musculoskeletal Health

المصدر: Journal of Clinical Endocrinology & Metabolism, 106(2), E1014-E1027. Oxford University Press
The Journal of clinical endocrinology and metabolism, 106(2), e1014-e1027. Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 106(2), E1014-E1027. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 106(2), E1014-E1027. ENDOCRINE SOC
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e1014-e1027
Journal of clinical endocrinology and metabolism, 106(2), e1014-e1027. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 106, e1014-e1027
van de Broek, M F M, de Laat, J M, van Leeuwaarde, R S, van de Ven, A C, De Herder, W W, Dekkers, O M, Drent, ML, Kerstens, M N, Bisschop, P H L T, Havekes, B, Hackeng, W M, Brosens, L A A, Vriens, M R, Buikhuisen, W A & Valk, G D 2021, ' The Management of Neuroendocrine Tumors of the Lung in MEN1 : Results From the Dutch MEN1 Study Group ', Journal of Clinical Endocrinology and Metabolism, vol. 106, no. 2, pp. E1014-E1027 . https://doi.org/10.1210/clinem/dgaa800Test

مصطلحات موضوعية: Oncology, Male, Lung Neoplasms, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Neuroendocrine tumors, Biochemistry, multiple endocrine neoplasia type 1, 0302 clinical medicine, Endocrinology, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Longitudinal Studies, Multiple endocrine neoplasia, Child, Aged, 80 and over, education.field_of_study, Absolute risk reduction, Disease Management, Middle Aged, Prognosis, Survival Rate, Neuroendocrine Tumors, lung NET, medicine.anatomical_structure, tumor growth, 030220 oncology & carcinogenesis, Child, Preschool, Cohort, surveillance, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Adolescent, Population, 030209 endocrinology & metabolism, survival, 03 medical and health sciences, Young Adult, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Humans, MEN1, education, Survival rate, Aged, Lung, business.industry, Biochemistry (medical), medicine.disease, business, Follow-Up Studies

الوصف: Introduction Multiple endocrine neoplasia type 1 (MEN1)-related neuroendocrine tumors (NETs) of the lung are mostly indolent, with a good prognosis. Nevertheless, cases of aggressive lung NET do occur, and therefore the management of individual patients is challenging. Aim To assess tumor growth and the survival of patients with MEN1-related lung NETs at long-term follow-up. Methods The population-based Dutch MEN1 Study Group database (n = 446) was used to identify lung NETs by histopathological and radiological examinations. Tumor diameter was assessed. Linear mixed models and the Kaplan-Meier method were used for analyzing tumor growth and survival. Molecular analyses were performed on a lung NET showing particularly aggressive behavior. Results In 102 patients (22.9% of the total MEN1 cohort), 164 lesions suspected of lung NETs were identified and followed for a median of 6.6 years. Tumor diameter increased 6.0% per year. The overall 15-year survival rate was 78.0% (95% confidence interval: 64.6–94.2%) without lung NET-related death. No prognostic factors for tumor growth or survival could be identified. A somatic c.3127A > G (p.Met1043Val) PIK3CA driver mutation was found in a case of rapid growing lung NET after 6 years of indolent disease, presumably explaining the sudden change in course. Conclusion MEN1-related lung NETs are slow growing and have a good prognosis. No accurate risk factors for tumor growth could be identified. Lung NET screening should therefore be based on well-informed, shared decision-making, balancing between the low absolute risk of an aggressive tumor in individuals and the potential harms of frequent thoracic imaging.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d9987eac83afd274c684e2e77a19eeTest
https://hdl.handle.net/1887/3563223Test

المؤلفون: Rachel S van Leeuwaarde, Gerlof D. Valk, Koen M.A. Dreijerink, Carolina R. C. Pieterman, Joanne M. de Laat, Menno R. Vriens

المصدر: van Leeuwaarde, R S, de Laat, J M, Pieterman, C R C, Dreijerink, K, Vriens, M R & Valk, G D 2017, ' The future : medical advances in MEN1 therapeutic approaches and management strategies ', Endocrine-Related Cancer, vol. 24, no. 10, pp. T179-T193 . https://doi.org/10.1530/ERC-17-0225Test
Endocrine-Related Cancer, 24(10), T179. Society for Endocrinology

مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Review, Neuroendocrine tumors, Hypoglycemia, pituitary tumor, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Breast cancer, Multiple Endocrine Neoplasia Type 1, Journal Article, Humans, Medicine, primary hyperparathyroidism, Multiple endocrine neoplasia, Intensive care medicine, Hyperparathyroidism, Gastrinoma, business.industry, Pituitary tumors, medicine.disease, Diabetes and Metabolism, Neuroendocrine Tumors, MEN1, Oncology, 030220 oncology & carcinogenesis, Immunology, business, neuroendocrine tumor, Primary hyperparathyroidism

الوصف: Multiple endocrine neoplasia type 1 is a rare autosomal inherited disorder associated with a high risk for patients to simultaneously develop tumors of the parathyroid glands, duodenopancreatic neuroendocrine tumors and tumors of the anterior pituitary gland. Early identification ofMEN1in patients enables presymptomatic screening of manifestations, which makes timely interventions possible with the intention to prevent morbidity and mortality. Causes of death nowadays have shifted toward local or metastatic progression of malignant neuroendocrine tumors. In early cohorts, complications like peptic ulcers in gastrinoma, renal failure in hyperparathyroidism, hypoglycemia and acute hypercalcemia were the primary causes of early mortality. Improved medical treatments of these complications led to a significantly improved life expectancy. The MEN1 landscape is still evolving, considering the finding of breast cancer as a new MEN1-related manifestation and ongoing publications on follow-up and medical care for patients with MEN1. This review aims at summarizing the most recent insights into the follow-up and medical care for patients with MEN1 and identifying the gaps for future research.

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd8b1d5325076c8bafe65a3f719fbf1Test
https://doi.org/10.1530/erc-17-0225Test

المؤلفون: Gerlof D. Valk, Rachel S van Leeuwaarde, Joanne M. de Laat

المصدر: Frontiers in Endocrinology, Vol 9 (2018)
Frontiers in Endocrinology, 9(SEP). Frontiers Media S. A.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, endocrine system diseases, diagnosis, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, lcsh:Diseases of the endocrine glands. Clinical endocrinology, genetic testing, 03 medical and health sciences, 0302 clinical medicine, Pituitary adenoma, Epidemiology, medicine, MEN1, delayed diagnosis, Multiple endocrine neoplasia, education, Index case, Genetic testing, education.field_of_study, lcsh:RC648-665, medicine.diagnostic_test, business.industry, medicine.disease, 030220 oncology & carcinogenesis, epidemiology, business, Primary hyperparathyroidism

الوصف: Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant inherited condition, causing significant morbidity, and a reduction of life expectancy. A timely and accurate diagnosis of MEN1 is paramount to improve disease outcomes. This enables early identification of tumor manifestations allowing timely treatment for reducing morbidity and improving survival. Current management of MEN1 poses two challenges regarding the MEN1 diagnosis: diagnostic delay and the issue of phenocopies. A delay in diagnosis can be caused by a delay in identifying the index case, and by a delay in identifying affected family members of an index case. At present, lag time between diagnosis of MEN1 in index cases and genetic testing of family members was estimated to be 3.5 years. A subsequent delay in diagnosing affected family members was demonstrated to cause potential harm. Non-index cases have been found to develop clinically relevant tumor manifestations during the lag times. Centralized care, monitoring of patients outcomes on a national level and thereby improving awareness of physicians treating MEN1 patients, will contribute to improved care. The second challenge relates to "phenocopies." Phenocopies refers to the 5-25% of clinically diagnosed patients with MEN1in whom no mutation can be found. Up to now, the clinical diagnosis of MEN1 is defined as the simultaneous presence of at least two of the three characteristic tumors (pituitary, parathyroids, or pancreatic islets). These clinically diagnosed patients undergo intensive follow up. Recent insights, however, challenge the validity of this clinical criterion. The most common mutation-negative MEN1 phenotype is the combination of primary hyperparathyroidism and a pituitary adenoma. This phenotype might also be caused by mutations in the CDKN1B gene, causing the recently described MEN4 syndrome. Moreover, primary hyperparathyroidism and pituitary adenoma are relatively common in the general population. Limiting follow-up in patients with a sporadic co-occurrence of pHPT and PIT could reduce exposure to radiation from imaging, healthcare costs and anxiety.

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea0cf5e92c78159faa447965adc9921eTest

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

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7d34e6fdb741cd3c7ff4ccd3d95b08eTest
https://cris.maastrichtuniversity.nl/en/publications/b8bc352b-1c62-49c4-a3c1-6ea0a692ce93Test

المؤلفون: Wouter P. Kluijfhout, Madeleine L. Drent, Alberto M. Pereira, Wouter W. de Herder, Ad R. M. M. Hermus, Gerlof D. Valk, Carolina R. C. Pieterman, Anouk N A van der Horst-Schrivers, Peter H. Bisschop, Olaf M. Dekkers, Joanne M. de Laat, Bas Havekes

المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS), AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, AMS - Amsterdam Movement Sciences, Endocrinology, Internal medicine, Other Research, Interne Geneeskunde, RS: NUTRIM - R1 - Metabolic Syndrome, Internal Medicine

المصدر: Journal of Clinical Endocrinology and Metabolism, 100(9), 3288-3296. ENDOCRINE SOC
Journal of clinical endocrinology and metabolism, 100(9), 3288-3296. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 100(9), 3288. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 100(9), 3288-3296. The Endocrine Society
Journal of Clinical Endocrinology & Metabolism, 100(9), 3288-3296. Oxford University Press
Journal of Clinical Endocrinology and Metabolism, 100, 3288-96
Journal of Clinical Endocrinology and Metabolism, 100(9), 3288-3296. Endocrine Society
de Laat, J M, Dekkers, O M, Pieterman, C R C, Kluijfhout, W P, Hermus, A R, Pereira, A M, van der Horst-Schrivers, A N, Drent, M L, Bisschop, P H, Havekes, B, de Herder, W W & Valk, G D 2015, ' Long-Term Natural Course of Pituitary Tumors in Patients With MEN1: Results From the DutchMEN1 Study Group (DMSG) ', Journal of Clinical Endocrinology and Metabolism, vol. 100, no. 9, pp. 3288-3296 . https://doi.org/10.1210/JC.2015-2015Test
Journal of Clinical Endocrinology and Metabolism, 100, 9, pp. 3288-96
Journal of Clinical Endocrinology and Metabolism, 100(9), 3288-3296

مصطلحات موضوعية: Male, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Clinical Biochemistry, BELGIUM, Pituitary neoplasm, Biochemistry, DISEASE, Endocrinology, Non-U.S. Gov't, Multiple endocrine neoplasia, INCIDENTALOMAS, Netherlands, education.field_of_study, CLINICAL-PRACTICE GUIDELINE, Research Support, Non-U.S. Gov't, Middle Aged, PREVALENCE, MULTIPLE ENDOCRINE NEOPLASIA, Disease Progression, Female, medicine.symptom, Cohort study, Adenoma, Adult, medicine.medical_specialty, Adolescent, Population, Context (language use), Research Support, DIAGNOSIS, Asymptomatic, TYPE-1 MEN1, Young Adult, Internal medicine, ADENOMAS, medicine, Multiple Endocrine Neoplasia Type 1, Journal Article, Humans, Pituitary Neoplasms, Prolactinoma, education, business.industry, Biochemistry (medical), Pituitary tumors, medicine.disease, business, Follow-Up Studies

الوصف: Context: Guidelines advise lifelong radiological followup for asymptomatic pituitary adenomas (PITs) because of the risk for growth and subsequent visual field defects. In the context of multiple endocrine neoplasia type 1 (MEN 1) an even more comprehensive screening is advised because PITs are presumed to manifest more aggressive behavior. We studied the long-term course of MEN 1related PITs, which may be used as a model for sporadically occurring PITs.Objective: The aim of our study is to assess the results of systematic pre-symptomatic PIT screening and subsequent long-term followup of PITs with emphasis on nonfunctioning microadenomas diagnosed by screening.Patients and Methods: A cohort study was performed using the Dutch national MEN1 database, including greater than 90"/o of the Dutch MEN 1 population older than 16 years (n = 323).Main Outcome Measures: Screening results, natural course, and effects of treatment of PIT were assessed.Results: PIT was diagnosed in 123 patients with M EN 1 (38.1 %), of whom 66 were diagnosed by MEN 1-related screening. Ninety-one percent of the nonfunctioning PIT detected during screening (n = 35), did not require intervention during followup (median, 6.0 y). Three microadenomas showed limited growth but did not progress toward macroadenomas. Both screening-detected and prevalent prolactinomas (n = 52) responded well to treatment with dopamine agonists.Conclusion: Systematic presymptomatic screening for PIT in patients with MEN 1 predominantly results in detection of nonfunctioning microadenomas. Prolactinoma in patients with MEN1 responded well to medical treatment. Microadenomas grew only occasionally and after many years without clinical consequences. Frequent magnetic resonance imaging followup of nonfunctioning microadenomas in the context of MEN1 and sporadically occurring PITs therefore seems debatable.

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70b7900b60c868ead98b6af9924ce5c3Test
https://doi.org/10.1210/JC.2015-2015Test

المؤلفون: Gerlof D. Valk, Carolina R. C. Pieterman, Ad R. M. M. Hermus, Wouter W. de Herder, Olaf M. Dekkers, Rachel S van Leeuwaarde, Inne H.M. Borel Rinkes, Joanne M. de Laat, Menno R. Vriens, Bas Havekes, Peter H. Bisschop, Madeleine L. Drent, Sjoerd Nell, Anouk N A van der Horst-Schrivers

المساهمون: Internal medicine, CCA - Disease profiling, Interne Geneeskunde, RS: NUTRIM - R1 - Metabolic Syndrome, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Movement Sciences, Endocrinology, Internal Medicine

المصدر: Nell, S, van Leeuwaarde, R S, Pieterman, C R C, de Laat, J 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, Borel Rinkes, I H M, Vriens, M R & Valk, G D 2015, ' No Association of Blood Type O With Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 ', Endocrinology, vol. 100, no. 10, pp. 3850-5 . https://doi.org/10.1210/jc.2015-2615Test
Journal of Clinical Endocrinology and Metabolism, 100(10), 3850-3855. The Endocrine Society
Journal of Clinical Endocrinology & Metabolism, 100(10), 3850-3855. Oxford University Press
Journal of Clinical Endocrinology and Metabolism, 100(10), 3850. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 100(10), 3850-3855. ENDOCRINE SOC
Nell, S, van Leeuwaarde, R S, Pieterman, C R C, de Laat, J M, Hermus, A R, Dekkers, O M, de Herder, W W, van der Horst-Schrivers, A, Drent, M L, Bisschop, P H, Havekes, B, Rinkes, I H M B, Vriens, M R & Valk, G D 2015, ' No Association of Blood Type O With Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 ', Journal of Clinical Endocrinology and Metabolism, vol. 100, no. 10, pp. 3850-3855 . https://doi.org/10.1210/jc.2015-2615Test
Journal of clinical endocrinology and metabolism, 100(10), 3850-3855. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 100, 3850-5
Journal of Clinical Endocrinology and Metabolism, 100(10), 3850-3855. Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 100, 10, pp. 3850-5
Journal of Clinical Endocrinology and Metabolism, 100(10), 3850-3855

مصطلحات موضوعية: Male, GROUP ALLELES, Databases, Factual, Endocrinology, Diabetes and Metabolism, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Clinical Biochemistry, Neuroendocrine tumors, Biochemistry, COLORECTAL-CANCER, Endocrinology, Multiple endocrine neoplasia, Non-U.S. Gov't, education.field_of_study, LEWIS-B, Research Support, Non-U.S. Gov't, Middle Aged, Neuroendocrine Tumors, SURVIVAL, Blood Group Antigens, Female, ABH, EXPRESSION, Adult, medicine.medical_specialty, CARCINOMA, Population, PANCREATIC-CANCER RISK, MEN1 PATIENTS, Research Support, SDG 3 - Good Health and Well-being, Pancreatic cancer, Internal medicine, ABO blood group system, medicine, Journal Article, Multiple Endocrine Neoplasia Type 1, Humans, MEN1, GROUP-RELATED ANTIGENS, Genetic Predisposition to Disease, education, Genetic Association Studies, Aged, Blood type, business.industry, Biochemistry (medical), Cancer, medicine.disease, business, LUNG

الوصف: Context:An association between ABO blood type and the development of cancer, in particular, pancreatic cancer, has been reported in the literature. An association between blood type O and neuroendocrine tumors in multiple endocrine neoplasia type 1 (MEN1) patients was recently suggested. Therefore, blood type O was proposed as an additional factor to personalize screening criteria for neuroendocrine tumors in MEN1 patients.Objective:The aim of this study was to assess the association between blood type O and the occurrence of neuroendocrine tumors in the national Dutch MEN1 cohort.Design:This is a cohort study using the Dutch National MEN1 database, which includes more than 90% of the Dutch MEN1 population. Demographic and clinical data were analyzed by blood type. Chi-square tests and Fisher exact tests were used to determine the association between blood type O and occurrence of neuroendocrine tumors. A cumulative incidence analysis (Gray's test) was performed to assess the equality of cumulative incidence of neuroendocrine tumors in blood type groups, taking death into account as a competing risk.Results:The ABO blood type of 200 of 322 MEN1 patients was known. Demographic and clinical characteristics were similar among blood type O and non-O type cohorts. The occurrence of neuroendocrine tumors of the lung, thymus, pancreas, and gastrointestinal tract was equally distributed across the blood type O and non-O type cohorts (Grays's test for equality; P = 0.72). Furthermore, we found no association between blood type O and the occurrence of metastatic disease or survival.Conclusions:An association between blood type O and the occurrence of neuroendocrine tumors in MEN1 patients was not confirmed. For this reason, the addition of the blood type to screening and surveillance practice seems not to be of additional value for identifying MEN1 patients at risk for the development of neuroendocrine tumors, metastatic disease, or a shortened survival.

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74c2352c09b6cd92afa4afc81bd0ef8eTest
https://doi.org/10.1210/jc.2015-2615Test