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Sule Canberk Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Abel Salazar Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal

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Joana C. Ferreira Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal

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Luísa Pereira Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal

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Rui Batısta Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal

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Andre F. Vieira Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal

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Paula Soares Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal

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Manuel Sobrinho Simões Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal
Abel Salazar Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal
Department of Pathology and Oncology, Centro Hospitalar São João, Porto, Portugal

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Valdemar Máximo Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal

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Variant Classification The TCGA data was filtered for the detection of DICER1 germline variants by a 2-step filtering process. First, exome-aligned sequence data from non-tumour samples (mostly from the blood, and, when not available, from thyroid

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000509183
Volume/Issue:
Volume 9: Issue 6
Free access
Laure Cazabat Endocrinology Department, Ambroise Paré University Hospital, AP-HP, Boulogne, France
Inserm U1173, Université Versailles-Saint-Quentin, Montigny-Le-Bretonneux, France

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Aglae  Terray Endocrinology Department, Ambroise Paré University Hospital, AP-HP, Boulogne, France

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Philippe de Mazancourt UMR U1179, U1173, Université Versailles-Saint-Quentin, Montigny-Le-Bretonneux, France

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Jacques  Ropers Clinical Research Unit, Ambroise Paré University Hospital, AP-HP, Boulogne, France

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Lionel Groussin Department of Endocrinology, Cochin University Hospital, AP-HP, Paris, France
UMR 8104, Institut Cochin, Paris, France

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Marie-Laure Raffin-Sanson Endocrinology Department, Ambroise Paré University Hospital, AP-HP, Boulogne, France
Inserm U1173, Université Versailles-Saint-Quentin, Montigny-Le-Bretonneux, France

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thyroid cancer risk in Hispanics. Endocr Connect 2016; 5: 123–127. 10.1530/EC-16-0017 27097599 7 Weeks AL, Wilson SG, Ward L, Goldblatt J, Hui J, Walsh JP: HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer. BMC Med Genet

Article Type:
Letter
DOI:
https://doi.org/10.1159/000477492
Volume/Issue:
Volume 6: Issue 4
Free access
Elen Dias Accordi Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba

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Paraskevi Xekouki Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH)

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Bruna Azevedo Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba

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Rodrigo Bertollo de Alexandre Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba

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Carla Frasson Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba
Álvaro Center for Analysis and Clinical Research - Diagnósticos da América (DASA), Cascavel, Brazil

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Siliane Marie Gantzel Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba

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Georgios Z. Papadakis Department of Radiology and Imaging Sciences, Clinical Center, National Institutes of Health (NIH), Bethesda, Md., USA

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Anna Angelousi Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH)

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Constantine A. Stratakis Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH)

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Vanessa Santos Sotomaior Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba

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Fabio R. Faucz Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH)

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with thyroid cancer. Other studies [ 14 , 24 ] have shown that germline variants of the S DHB , SDHC, or SDHD genes may occur in a subset of PTEN mutation-negative Cowden and Cowden-like syndrome individuals. These individuals presented more

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000444522
Volume/Issue:
Volume 5: Issue 2
Free access
Julia A Baran Division of Endocrinology and Diabetes, The Thyroid Center, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Mya Bojarsky Division of Endocrinology and Diabetes, The Thyroid Center, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Stephen Halada Division of Endocrinology and Diabetes, The Thyroid Center, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Julio C Ricarte-Filho Division of Endocrinology and Diabetes, The Thyroid Center, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Amber Isaza Division of Endocrinology and Diabetes, The Thyroid Center, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Aime T Franco Division of Endocrinology and Diabetes, The Thyroid Center, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Lea F Surrey Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA

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Tricia Bhatti Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA

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Zubair Baloch Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA

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N Scott Adzick Department of Surgery, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Sogol Mostoufi-Moab Division of Endocrinology and Diabetes, The Thyroid Center, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Division of Oncology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Ken Kazahaya Division of Pediatric Otolaryngology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Department of Otorhinolaryngology: Head and Neck Surgery, University of Pennsylvania, Philadelphia, Pennsylvania, USA

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Andrew J Bauer Division of Endocrinology and Diabetes, The Thyroid Center, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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/LP oncogenic alterations (3/192, 2%), including RAD50 , CHEK2 ,or BLM , or carry germline variants (2/192, 1%). Of the 40 patients with no identifiable driver thyroid oncogenic alteration, 43% (17/40) underwent research molecular testing using the Asuragen

Article Type:
Research Article
Collections:
Pediatric thyroid diseases
DOI:
https://doi.org/10.1530/ETJ-23-0265
Volume/Issue:
Volume 13: Issue 4
Open access
Chantal A Lebbink Wilhelmina Children’s Hospital and Princess Máxima Center, Utrecht, The Netherlands

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

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

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Renuka P Dias Department of Paediatric Endocrinology and Diabetes, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom

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Rossella Elisei Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Louise Izatt Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, United Kingdom

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

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

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

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Kate Newbold Thyroid Therapy Unit, The Royal Marsden NHS Foundation Trust, London, United Kingdom

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

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Manuel 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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Toru Takano Thyroid Center, Rinku General Medical Center, Osaka, Japan

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A S Paul van Trotsenburg Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands

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Frederik A Verburg Department of Radiology and Nuclear Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands

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Hanneke M van Santen Wilhelmina Children’s Hospital and Princess Máxima Center, Utrecht, The Netherlands

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Rosenberg PS Neoplasm risk among individuals with a pathogenic germline variant in DICER1 . Journal of Clinical Oncology 2019 37 668 – 676 . ( https://doi.org/10.1200/JCO.2018.78.4678 ) 138 Yamashita S Saenko V . Mechanisms of disease: molecular

Article Type:
Other
Collections:
Pediatric thyroid diseases
DOI:
https://doi.org/10.1530/ETJ-22-0146
Volume/Issue:
Volume 11: Issue 6
Open access