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  • Author: R P Dias x
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S C Clement Department of Pediatrics, Emma Children’s Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands

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W E Visser Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands

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C A Lebbink Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

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D Albano Department of Nuclear Medicine, University of Brescia and Spedali Civili of Brescia, Brescia, Italy

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H L Claahsen-van der Grinten Department of Pediatrics, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands

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A Czarniecka The Oncologic and Reconstructive Surgery Clinic, M. Sklodowska-Curie National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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R P Dias Department of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham Women’s, and Children’s NHS Foundation Trust, Birmingham, UK
Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK

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M P Dierselhuis Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

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I Dzivite-Krisane Department of Pediatric Endocrinology, Children's Clinical University Hospital, Riga, Latvia

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R Elisei Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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A Garcia-Burillo Nuclear Medicine Department, Vall d'Hebron University Hospital, Barcelona, Spain

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L Izatt Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK

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C Kanaka-Gantenbein Division of Endocrinology, Diabetes, and Metabolism, First Department of Pediatrics National and Kapodistrian University of Athens Medical School, Aghia Sophia Children's Hospital, Athens, Greece

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H Krude Institute of Experimental Pediatric Endocrinology, Charité - Universitätsmedizin, Berlin, Germany

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L Lamartina Department of Endocrine Oncology, Gustave Roussy, Villejuif, France

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K Lorenz Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany

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M Luster Department of Nuclear Medicine, University Hospital Marburg, Marburg, Germany

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R Navardauskaitė Department of Endocrinology, Lithuanian University of Health Sciences, Kaunas, Lithuania

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M Negre Busó Nuclear Medicine Service - Institut de diagnòstic per la Imatge, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain

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K Newbold Thyroid Therapy Unit, The Royal Marsden NHS Foundation Trust Hospital, London, UK

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R P Peeters Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands

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G Pellegriti Endocrinology, Endocrinology Division, Garibaldi-Nesima Medical Center, Catania, Italy

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A Piccardo Department of Nuclear Medicine, EO Ospedali Galliera, Genoa, Italy

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A L Priego Department of Medicine, Division of Endocrinology, Leiden, University medical Center, Leiden, The Netherlands

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A Redlich Pediatric Oncology Department, Otto von Guericke University Children's Hospital, Magdeburg, Germany

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L de Sanctis Regina Margherita Children Hospital - Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy

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M Sobrinho-Simões University Hospital of São João, Medical Faculty and Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal

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A S P van Trotsenburg Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands

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F A Verburg Department of Radiology & Nuclear Medicine, Erasmus MC Rotterdam, Rotterdam, The Netherlands

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M Vriens Department of Endocrine Surgery, University Medical Center Utrecht, Utrecht, The Netherlands

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T P Links Department of Endocrinology, University Medical Center Groningen, Groningen, The Netherlands

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S F Ahmed Endocrinology, Endocrinology Division, Garibaldi-Nesima Medical Center, Catania, Italy
Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK

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H M van Santen Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

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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.

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-22-0306
Volume/Issue:
Volume 12: Issue 3
Open access
Rui M B Maciel Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Cleber P Camacho Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Lígia V M Assumpção Faculdade de Ciências Médicas, Universidade de Campinas, Campinas, São Paulo, Brazil

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Natassia E Bufalo Faculdade de Ciências Médicas, Universidade de Campinas, Campinas, São Paulo, Brazil

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André L Carvalho Hospital de Câncer de Barretos, Barretos, São Paulo, Brazil

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Gisah A de Carvalho Faculdade de Medicina, Universidade Federal do Paraná, Curitiba, Paraná, Brazil

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Luciana A Castroneves Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
Instituto do Câncer do Estado de São Paulo, São Paulo, São Paulo, Brazil

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Francisco M de Castro Jr Universidade Federal do Ceará, Fortaleza, Ceará, Brazil

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Lucieli Ceolin Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

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Janete M Cerutti Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Rossana Corbo Instituto Nacional do Câncer, Rio de Janeiro, Rio de Janeiro, Brazil

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Tânia M B L Ferraz Hospital Geral de Fortaleza, Fortaleza, Ceará, Brazil

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Carla V Ferreira Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

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M Inez C França Universidade Federal do Espírito Santo, Vitória, Espírito Santo, Brazil
Hospital Santa Rita de Cássia, Vitória, Espírito Santo, Brazil

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Henrique C R Galvão Hospital de Câncer de Barretos, Barretos, São Paulo, Brazil

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Fausto Germano-Neto Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Hans Graf Faculdade de Medicina, Universidade Federal do Paraná, Curitiba, Paraná, Brazil

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Alexander A L Jorge Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Ilda S Kunii Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Márcio W Lauria Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil

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Vera L G Leal Instituto Estadual de Diabetes e Endocrinologia, Rio de Janeiro, Rio de Janeiro, Brazil

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Susan C Lindsey Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Delmar M Lourenço Jr Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
Instituto do Câncer do Estado de São Paulo, São Paulo, São Paulo, Brazil

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Léa M Z Maciel Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brazil

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Patrícia K R Magalhães Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brazil

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João R M Martins Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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M Cecília Martins-Costa Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
Hospital Geral de Fortaleza, Fortaleza, Ceará, Brazil
Universidade de Fortaleza, Fortaleza, Ceará, Brazil

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Gláucia M F S Mazeto Faculdade de Medicina de Botucatu, Universidade Estadual Paulista, Botucatu, São Paulo, Brazil

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Anelise I Impellizzeri Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil

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Célia R Nogueira Faculdade de Medicina de Botucatu, Universidade Estadual Paulista, Botucatu, São Paulo, Brazil

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Edenir I Palmero Hospital de Câncer de Barretos, Barretos, São Paulo, Brazil
Faculdade de Ciências da Saúde de Barretos Dr. Paulo Prata, Barretos, São Paulo, Brazil

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Cencita H C N Pessoa Instituto Nacional do Câncer, Rio de Janeiro, Rio de Janeiro, Brazil

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Bibiana Prada Faculdade de Medicina de Botucatu, Universidade Estadual Paulista, Botucatu, São Paulo, Brazil

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Débora R Siqueira Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

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Maria Sharmila A Sousa Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
Escola Fiocruz de Governo, Fundação Oswaldo Cruz and Ministério da Saúde, Brasília, Distrito Federal, Brazil

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Rodrigo A Toledo Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
Vall d’Hebron Institute of Oncology (VHIO), CIBERONC, Barcelona, Spain

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Flávia O F Valente Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Fernanda Vaisman Instituto Nacional do Câncer, Rio de Janeiro, Rio de Janeiro, Brazil

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Laura S Ward Faculdade de Ciências Médicas, Universidade de Campinas, Campinas, São Paulo, Brazil

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Shana S Weber Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

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Rita V Weiss Instituto Estadual de Diabetes e Endocrinologia, Rio de Janeiro, Rio de Janeiro, Brazil

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Ji H Yang Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Magnus R Dias-da-Silva Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Ana O Hoff Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
Instituto do Câncer do Estado de São Paulo, São Paulo, São Paulo, Brazil

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Sergio P A Toledo Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Ana L Maia Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

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Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazilian centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, C620, C630, E768 and S891 present a similar prevalence, some mutations have a lower prevalence in Brazil, and others are found mainly in Brazil (G533C and M918V). These results reflect the singular proportion of European, Amerindian and African ancestries in the Brazilian mosaic genome.

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0506
Volume/Issue:
Volume 8: Issue 3
Open access