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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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, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome, and DICER1 syndrome. The remaining 95% of FNMTCs represent a less-defined genetic suscepti­bility group, designated as “non-syndromic.” Of these, DICER1 (previously

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000509183
Volume/Issue:
Volume 9: Issue 6
Free access
Marek Niedziela Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Nelly Sabbaghian Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Québec, Canada

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Leanne de Kock Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Québec, Canada
Department of Human Genetics, McGill University, Montreal, Québec, Canada

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William D. Foulkes Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Québec, Canada
Department of Human Genetics, McGill University, Montreal, Québec, Canada

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of DICER1 syndrome caused by loss-of-function germline DICER1 alterations on chromosome 14q32.13; MNG in DICER1 syndrome is usually represented by benign nodules, but thyroid cancer may also occur. Novel Insights Intrathyroidal

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000510004
Volume/Issue:
Volume 10: Issue 3
Free access
Dorothée Bouron-Dal Soglio Department of Pathology, CHU Sainte-Justine, Montreal, Québec, Canada

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Leanne de Kock The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada
Department of Human Genetics, McGill University, Montreal, Québec, Canada

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Richard Gauci Nuclear Medicine, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia

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Nelly Sabbaghian The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada

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Elizabeth Thomas Nuclear Medicine, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia
Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Subiaco, Washington, Australia

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Helen C. Atkinson Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia

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Nicholas Pachter Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia
King Edward Memorial Hospital, Perth, Washington, Australia

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Simon Ryan Department of General Surgery, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia

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John P. Walsh Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia

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M. Priyanthi Kumarasinghe PathWest, QEII Medical Centre, Perth, Washington, Australia

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Karen Carpenter Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Washington, Australia

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Ayça Aydoğan Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey

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Colin J.R. Stewart King Edward Memorial Hospital, Perth, Washington, Australia

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William D. Foulkes The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada
Department of Human Genetics, McGill University, Montreal, Québec, Canada
Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada

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Catherine S. Choong Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Subiaco, Washington, Australia
Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia

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spectrum of which could be attributed to either Cowden or DICER1 syndromes. A PTEN mutation was discovered, highlighting rare manifestations of Cowden syndrome including ovarian germ cell tumour and lung cysts. Introduction Screening for

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000481620
Volume/Issue:
Volume 7: Issue 1
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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miRInform thyroid test analyzes the presence of common variants in BRAF , HRAS , KRAS , and NRAS , and fusion transcripts in RET/PTC1 , RET/PTC3 ,and PAX8-PPARγ in pathologic specimens, and does not analyze PTEN, DICER1 , NTRK fusions, and novel

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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treatment and/or follow-up should be adjusted? Conclusion In children DICER1 or PTHS, DTC does not seem to have a more aggressive presentation, outcome, and disease course. ⊕⊖⊖⊖ 23. Is presentation, outcome, and/or disease course of DTC in

Article Type:
Other
Collections:
Pediatric thyroid diseases
DOI:
https://doi.org/10.1530/ETJ-22-0146
Volume/Issue:
Volume 11: Issue 6
Open access
Junyu Tong Department of Nuclear Medicine, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, People’s Republic of China
Department of Nuclear Medicine, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China

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Maomei Ruan Department of Nuclear Medicine, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China
Department of Nuclear Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai, People’s Republic of China

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Yuchen Jin Department of Nuclear Medicine, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China

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Hao Fu Department of Nuclear Medicine, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China

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Lin Cheng Department of Nuclear Medicine, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China

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Qiong Luo Department of Nuclear Medicine, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, People’s Republic of China

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Zhiyan Liu Department of Nuclear Medicine, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China
Department of Pathology, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China

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Zhongwei Lv Department of Nuclear Medicine, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, People’s Republic of China

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Libo Chen Department of Nuclear Medicine, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China

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occur in other thyroid carcinomas are almost never found in PDTC ( 42 , 47 ). PDTC in children and adolescents were strongly associated with DICER1 mutations, which are distinct from adult-onset PDTC ( 49 ). Medical imaging Local recurrence

Article Type:
Review Article
Collections:
Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-22-0021
Volume/Issue:
Volume 11: Issue 2
Open access
L.A. Jonker Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, 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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M.C.J. Jongmans Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

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R.A.J. Nievelstein Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Department of Pediatric Radiology and Nuclear Medicine, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

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J.H.M. Merks Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

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E.J.M. Nieveen van Dijkum Department of Surgery, Cancer Center Amsterdam, Amsterdam University Medical Center, Amsterdam, The Netherlands

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

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N. Hoogerbrugge Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

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

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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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, Achatz MI , Wasserman JD , et al. PTEN, DICER1, FH , and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood . Clin Cancer Res . 2017 Jun ; 23 ( 12 ): e76 – 82 . 10

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000508872
Volume/Issue:
Volume 9: Issue 5
Open access
Alessia Cozzolino Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy

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Tiziana Filardi Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy

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Ilaria Simonelli Service of Medical Statistics and Information Technology, Fatebenefratelli Foundation for Health Research and Education, Rome, Italy
Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy

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Giorgio Grani Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy

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Camilla Virili Endocrinology Unit, Department of Medico-Surgical Sciences and Biotechnologies, ‘Sapienza’ University of Rome, Latina, Italy

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Ilaria Stramazzo Endocrinology Unit, Department of Medico-Surgical Sciences and Biotechnologies, ‘Sapienza’ University of Rome, Latina, Italy

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Maria Giulia Santaguida Endocrinology Unit, Department of Medico-Surgical Sciences and Biotechnologies, ‘Sapienza’ University of Rome, Latina, Italy

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Pietro Locantore Endocrinology Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy

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Massimo Maurici Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy

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Daniele Gianfrilli Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy

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Andrea M Isidori Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy

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Cosimo Durante Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy

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Carlotta Pozza Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy

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on behalf of TALENT Group
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on behalf of TALENT Group

, autoimmune thyroid disease (e.g. Hashimoto’s thyroiditis), prior radiation exposure, as well as genetic syndromes (APC (associated polyposis conditions), Carney complex, DICER1 syndrome, PTEN hamartoma tumor syndrome, and Werner syndrome) ( 4 ). Several

Article Type:
Review Article
Collections:
Goiter and thyroid nodules
DOI:
https://doi.org/10.1530/ETJ-22-0039
Volume/Issue:
Volume 11: Issue 3
Open access