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1. Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project:rationale and protocol

Author

Clement, S. C., Visser, W. E., Lebbink, C. A., Albano, D., Claahsen-Van der Grinten, H. L., Czarniecka, A., Dias, R. P., Dierselhuis, M. P., Dzivite-Krisane, I., Elisei, R., Garcia-Burillo, A., Izatt, L., Kanaka-Gantenbein, C., Krude, H., Lamartina, L., Lorenz, K., Luster, M., Navardauskaitė, R., Negre Busó, M., Newbold, K., Peeters, R. P., Pellegriti, G., Piccardo, A., Priego, A. L., Redlich, A., de Sanctis, L., Sobrinho-Simões, M., van Trotsenburg, A. S.P., Verburg, F. A., Vriens, M., Links, T. P., Ahmed, S. F., van Santen, H. M., Clement, S. C., Visser, W. E., Lebbink, C. A., Albano, D., Claahsen-Van der Grinten, H. L., Czarniecka, A., Dias, R. P., Dierselhuis, M. P., Dzivite-Krisane, I., Elisei, R., Garcia-Burillo, A., Izatt, L., Kanaka-Gantenbein, C., Krude, H., Lamartina, L., Lorenz, K., Luster, M., Navardauskaitė, R., Negre Busó, M., Newbold, K., Peeters, R. P., Pellegriti, G., Piccardo, A., Priego, A. L., Redlich, A., de Sanctis, L., Sobrinho-Simões, M., van Trotsenburg, A. S.P., Verburg, F. A., Vriens, M., Links, T. P., Ahmed, S. F., and van Santen, H. M.

Abstract

Background: Although differentiated thyroid carcinoma (DTC) is the most frequent endocrine pediatric cancer, it is rare in childhood and adolescence. While tumor persistence and recurrence are not uncommon, mortality remains extremely low. Complications of treatment are however reported in up to 48% of the survivors. Due to the rarity of the disease, current treatment guidelines are predominantly based on the results of small observational retrospective studies and extrapolations from results in adult patients. In order to develop more personalized treatment and follow-up strategies (aiming to reduce complication rates), there is an unmet need for uniform international prospective data collection and clinical trials. Methods and analysis: The European pediatric thyroid carcinoma registry aims to collect clinical data for all patients ≤18 years of age with a confirmed diagnosis of DTC who have been diagnosed, assessed, or treated at a participating site. This registry will be a component of the wider European Registries for Rare Endocrine Conditions project which has close links to Endo-ERN, the European Reference Network for Rare Endocrine Conditions. A multidisciplinary expert working group was formed to develop a minimal dataset comprising information regarding demographic data, diagnosis, treatment, and outcome. We constructed an umbrella-type registry, with a detailed basic dataset. In the future, this may provide the opportunity for research teams to integrate clinical research questions. Ethics and dissemination: Written informed consent will be obtained from all participants and/or their parents/guardians. Summaries and descriptive analyses of the registry will be disseminated via conference presentations and peer-reviewed publications.

Published
2023

2. Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project: rationale and protocol

Author

Endocrinologie onderzoek, Arts-assistenten Kinderen, CTI Van der Vlist, Cancer, Heelkunde Opleiding, MS CGO, Endocrinologie patientenzorg, Brain, Child Health, Clement, S. C., Visser, W. E., Lebbink, C. A., Albano, D., Claahsen-Van der Grinten, H. L., Czarniecka, A., Dias, R. P., Dierselhuis, M. P., Dzivite-Krisane, I., Elisei, R., Garcia-Burillo, A., Izatt, L., Kanaka-Gantenbein, C., Krude, H., Lamartina, L., Lorenz, K., Luster, M., Navardauskaitė, R., Negre Busó, M., Newbold, K., Peeters, R. P., Pellegriti, G., Piccardo, A., Priego, A. L., Redlich, A., de Sanctis, L., Sobrinho-Simões, M., van Trotsenburg, A. S.P., Verburg, F. A., Vriens, M., Links, T. P., Ahmed, S. F., van Santen, H. M., Endocrinologie onderzoek, Arts-assistenten Kinderen, CTI Van der Vlist, Cancer, Heelkunde Opleiding, MS CGO, Endocrinologie patientenzorg, Brain, Child Health, Clement, S. C., Visser, W. E., Lebbink, C. A., Albano, D., Claahsen-Van der Grinten, H. L., Czarniecka, A., Dias, R. P., Dierselhuis, M. P., Dzivite-Krisane, I., Elisei, R., Garcia-Burillo, A., Izatt, L., Kanaka-Gantenbein, C., Krude, H., Lamartina, L., Lorenz, K., Luster, M., Navardauskaitė, R., Negre Busó, M., Newbold, K., Peeters, R. P., Pellegriti, G., Piccardo, A., Priego, A. L., Redlich, A., de Sanctis, L., Sobrinho-Simões, M., van Trotsenburg, A. S.P., Verburg, F. A., Vriens, M., Links, T. P., Ahmed, S. F., and van Santen, H. M.

Published
2023

3. New national recommendations for the treatment of pediatric differentiated thyroid carcinoma in the Netherlands

Author

Endocrinologie onderzoek, RF&S Team 1 Medisch, MS Radiologie, Arts-assistenten Kinderen, Cancer, Arts-assistenten Radiologie, Other research (not in main researchprogram), PMC Medisch specialisten, Arts Assistenten CTC, Heelkunde Opleiding, MS CGO, Endocrinologie patientenzorg, Brain, Child Health, Lebbink, C. A., Dekker, B. L., Bocca, G., Braat, A. J.A.T., Derikx, J. P.M., Dierselhuis, M. P., de Keizer, B., Kruijff, S., Kwast, A. B.G., van Nederveen, F. H., Nieveen van Dijkum, E. J.M., Nievelstein, R. A.J., Peeters, R. P., Terwisscha van Scheltinga, C. E.J., Tissing, W. J.E., van der Tuin, K., Vriens, M. R., Zsiros, J., van Trotsenburg, A. S.P., Links, T. P., van Santen, H. M., Endocrinologie onderzoek, RF&S Team 1 Medisch, MS Radiologie, Arts-assistenten Kinderen, Cancer, Arts-assistenten Radiologie, Other research (not in main researchprogram), PMC Medisch specialisten, Arts Assistenten CTC, Heelkunde Opleiding, MS CGO, Endocrinologie patientenzorg, Brain, Child Health, Lebbink, C. A., Dekker, B. L., Bocca, G., Braat, A. J.A.T., Derikx, J. P.M., Dierselhuis, M. P., de Keizer, B., Kruijff, S., Kwast, A. B.G., van Nederveen, F. H., Nieveen van Dijkum, E. J.M., Nievelstein, R. A.J., Peeters, R. P., Terwisscha van Scheltinga, C. E.J., Tissing, W. J.E., van der Tuin, K., Vriens, M. R., Zsiros, J., van Trotsenburg, A. S.P., Links, T. P., and van Santen, H. M.

Published
2020

4. Recommendations on Surveillance for Differentiated Thyroid Carcinoma in Children with PTEN Hamartoma Tumor Syndrome

Author

Utrecht Valorisatie Centrum, Endocrinologie onderzoek, Genetica, MS Neonatologie, Arts-assistenten Radiologie, Other research (not in main researchprogram), PMC Medisch specialisten, Endocrinologie patientenzorg, Brain, Child Health, Cancer, Jonker, L A, Lebbink, C A, Jongmans, M C J, Nievelstein, R A J, Merks, J H M, Nieveen van Dijkum, E J M, Links, T P, Hoogerbrugge, N, van Trotsenburg, A S P, van Santen, H M, Utrecht Valorisatie Centrum, Endocrinologie onderzoek, Genetica, MS Neonatologie, Arts-assistenten Radiologie, Other research (not in main researchprogram), PMC Medisch specialisten, Endocrinologie patientenzorg, Brain, Child Health, Cancer, Jonker, L A, Lebbink, C A, Jongmans, M C J, Nievelstein, R A J, Merks, J H M, Nieveen van Dijkum, E J M, Links, T P, Hoogerbrugge, N, van Trotsenburg, A S P, and van Santen, H M

Published
2020

5. Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands

Author

Stunnenberg, B. C., Stunnenberg, B. C., Raaphorst, J., Deenen, J. C. W., Links, T. P., Wilde, A. A., Verbove, D. J., Kamsteeg, E. J., van den Wijngaard, A., Faber, C. G., van der Wilt, G. J., van Engelen, B. G. M., Drost, G., Ginjaar, H. B., Stunnenberg, B. C., Stunnenberg, B. C., Raaphorst, J., Deenen, J. C. W., Links, T. P., Wilde, A. A., Verbove, D. J., Kamsteeg, E. J., van den Wijngaard, A., Faber, C. G., van der Wilt, G. J., van Engelen, B. G. M., Drost, G., and Ginjaar, H. B.

Abstract

Few reliable data exist on the prevalence of skeletal muscle channelopathies. We determined the minimum point prevalence of genetically defined skeletal muscle channelopathies in the Netherlands and report their mutation spectrum. Minimum point prevalence rates were calculated as number of genetically-confirmed skeletal muscle channelopathy patients (CLCNJ, SCN4A, CACNAIS and KCNJ2 gene mutations) in the Netherlands (1990-2015) divided by the total number of at-risk individuals. Rates were expressed as cases/100.000 and 95% confidence intervals were calculated based on Poisson distribution. Results of standardized genetic diagnostic procedures were used to analyze mutation spectra. We identified 405 patients from 234 unrelated pedigrees, resulting in a minimum point prevalence of 2.38/100.000 (95% CI 2.16-2.63) for skeletal muscle channelopathies in the Netherlands. Minimum point prevalence rates for the disease groups, non-dystrophic myotonia and periodic paralysis, were 1.70/100.000 and 0.69/100.000 respectively. Sixty-one different CLCN1 mutations (including 12 novel mutations) were detected in myotonia congenita. Twenty-eight different SCN4A missense mutations (including three novel mutations) were identified in paramyotonia congenita/sodium channel myotonia, hypokalemic periodic paralysis and hyperkalemic periodic paralysis. Four different CACNAIS missense mutations were detected in hypokalemic periodic paralysis and five KCNJ2 missense mutations in Andersen Tawil syndrome. The minimum point prevalence rates for genetically-defined skeletal muscle channelopathies confirm their rare disease status in the Netherlands. Rates are almost twice as high as in the UK and more in line with pre-genetic prevalence estimates in parts of Scandinavia. Future diagnostic and therapeutic studies may benefit from knowledge of the mutation spectrum of skeletal muscle channelopathies. (C) 2018 Elsevier B.V. All rights reserved.

Published
2018

6. Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands

Author

Stunnenberg, B. C., Raaphorst, J., Deenen, J. C. W., Links, T. P., Wilde, A. A., Verbove, D. J., Kamsteeg, E. J., van den Wijngaard, A., Faber, C. G., van der Wilt, G. J., van Engelen, B. G. M., Drost, G., Ginjaar, H. B., Stunnenberg, B. C., Raaphorst, J., Deenen, J. C. W., Links, T. P., Wilde, A. A., Verbove, D. J., Kamsteeg, E. J., van den Wijngaard, A., Faber, C. G., van der Wilt, G. J., van Engelen, B. G. M., Drost, G., and Ginjaar, H. B.

Abstract

Few reliable data exist on the prevalence of skeletal muscle channelopathies. We determined the minimum point prevalence of genetically defined skeletal muscle channelopathies in the Netherlands and report their mutation spectrum. Minimum point prevalence rates were calculated as number of genetically-confirmed skeletal muscle channelopathy patients (CLCNJ, SCN4A, CACNAIS and KCNJ2 gene mutations) in the Netherlands (1990-2015) divided by the total number of at-risk individuals. Rates were expressed as cases/100.000 and 95% confidence intervals were calculated based on Poisson distribution. Results of standardized genetic diagnostic procedures were used to analyze mutation spectra. We identified 405 patients from 234 unrelated pedigrees, resulting in a minimum point prevalence of 2.38/100.000 (95% CI 2.16-2.63) for skeletal muscle channelopathies in the Netherlands. Minimum point prevalence rates for the disease groups, non-dystrophic myotonia and periodic paralysis, were 1.70/100.000 and 0.69/100.000 respectively. Sixty-one different CLCN1 mutations (including 12 novel mutations) were detected in myotonia congenita. Twenty-eight different SCN4A missense mutations (including three novel mutations) were identified in paramyotonia congenita/sodium channel myotonia, hypokalemic periodic paralysis and hyperkalemic periodic paralysis. Four different CACNAIS missense mutations were detected in hypokalemic periodic paralysis and five KCNJ2 missense mutations in Andersen Tawil syndrome. The minimum point prevalence rates for genetically-defined skeletal muscle channelopathies confirm their rare disease status in the Netherlands. Rates are almost twice as high as in the UK and more in line with pre-genetic prevalence estimates in parts of Scandinavia. Future diagnostic and therapeutic studies may benefit from knowledge of the mutation spectrum of skeletal muscle channelopathies. (C) 2018 Elsevier B.V. All rights reserved.

Published
2018

7. Intermediate and long-term adverse effects of radioiodine therapy for differentiated thyroid carcinoma - A systematic review

Author

Clement, S C, Peeters, R P, Ronckers, C M, Links, T P, van den Heuvel-Eibrink, M M, Nieveen van Dijkum, E J M, van Rijn, R R, van der Pal, H J H, Neggers, S J, Kremer, L C M, van Eck-Smit, B L F, van Santen, H M, Clement, S C, Peeters, R P, Ronckers, C M, Links, T P, van den Heuvel-Eibrink, M M, Nieveen van Dijkum, E J M, van Rijn, R R, van der Pal, H J H, Neggers, S J, Kremer, L C M, van Eck-Smit, B L F, and van Santen, H M

Published
2015

8. Intermediate and long-term adverse effects of radioiodine therapy for differentiated thyroid carcinoma - A systematic review

Author

Clement, S C, Peeters, R P, Ronckers, C M, Links, T P, van den Heuvel-Eibrink, M M, Nieveen van Dijkum, E J M, van Rijn, R R, van der Pal, H J H, Neggers, S J, Kremer, L C M, van Eck-Smit, B L F, van Santen, H M, Clement, S C, Peeters, R P, Ronckers, C M, Links, T P, van den Heuvel-Eibrink, M M, Nieveen van Dijkum, E J M, van Rijn, R R, van der Pal, H J H, Neggers, S J, Kremer, L C M, van Eck-Smit, B L F, and van Santen, H M

Published
2015

9. Intermediate and long-term adverse effects of radioiodine therapy for differentiated thyroid carcinoma - A systematic review

Author

Clement, S C, Peeters, R P, Ronckers, C M, Links, T P, van den Heuvel-Eibrink, M M, Nieveen van Dijkum, E J M, van Rijn, R R, van der Pal, H J H, Neggers, S J, Kremer, L C M, van Eck-Smit, B L F, van Santen, H M, Clement, S C, Peeters, R P, Ronckers, C M, Links, T P, van den Heuvel-Eibrink, M M, Nieveen van Dijkum, E J M, van Rijn, R R, van der Pal, H J H, Neggers, S J, Kremer, L C M, van Eck-Smit, B L F, and van Santen, H M

Published
2015

10. Intermediate and long-term adverse effects of radioiodine therapy for differentiated thyroid carcinoma - A systematic review

Author

Endocrinologie patientenzorg, Child Health, Endocrinologie onderzoek, Clement, S C, Peeters, R P, Ronckers, C M, Links, T P, van den Heuvel-Eibrink, M M, Nieveen van Dijkum, E J M, van Rijn, R R, van der Pal, H J H, Neggers, S J, Kremer, L C M, van Eck-Smit, B L F, van Santen, H M, Endocrinologie patientenzorg, Child Health, Endocrinologie onderzoek, Clement, S C, Peeters, R P, Ronckers, C M, Links, T P, van den Heuvel-Eibrink, M M, Nieveen van Dijkum, E J M, van Rijn, R R, van der Pal, H J H, Neggers, S J, Kremer, L C M, van Eck-Smit, B L F, and van Santen, H M

Published
2015

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