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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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cancer predisposition, particularly in PTC, we analyzed the prevalence of germline/somatic variants in the largest PTC case series available in The Cancer Genome Atlas (TCGA), the most comprehensive multiplatform data portal. Materials and Methods

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000509183
Volume/Issue:
Volume 9: Issue 6
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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diagnosed with benign or malignant disease. In these situations, the phenotypic presentation of a patient and relatives must be taken into account to determine the most appropriate genetic test. Patients who harbour a germ-line mutation associated with a

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000481620
Volume/Issue:
Volume 7: Issue 1
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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was followed by chemotherapy. In view of the PPB diagnosis, genetic analysis was performed, which identified a germline DICER1 pathogenic variant (c.2062C>T, p.R688*)in the child. The father and paternal aunt (each of whom had MNG), the younger

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000510004
Volume/Issue:
Volume 10: Issue 3
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
Thomas Karrasch Department of Internal Medicine III, Giessen University Hospital, Giessen

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Saskia M. Herbst Center for and Institute of Human Genetics, University of Regensburg, Regensburg, Germany

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Ute Hehr Center for and Institute of Human Genetics, University of Regensburg, Regensburg, Germany

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Andreas Schmid Department of Internal Medicine III, Giessen University Hospital, Giessen

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Andreas Schäffler Department of Internal Medicine III, Giessen University Hospital, Giessen

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variant p.Tyr826Ser in exon 14 is unclear and no scientific publications on this genotype have been published so far. What Does This Case Report Add? • In the absence of functional studies, the plausibility of pathologic significance of a detected

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000443730
Volume/Issue:
Volume 5: Issue 1
Free access
Ségolène Hescot Department of Drug Development and Innovation (D3i), Institut Curie, Paris, France

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Julien Masliah-Planchon Department of Genetics, Institut Curie, Paris, France

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Pauline du Rusquec Department of Drug Development and Innovation (D3i), Institut Curie, Paris, France

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Célia Dupain Department of Drug Development and Innovation (D3i), Institut Curie, Paris, France

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Maud Kamal Department of Drug Development and Innovation (D3i), Institut Curie, Paris, France

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Vincent Servois Department of Radiology, Institut Curie, Paris, France

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Ivan Bieche Department of Genetics, Institut Curie, Paris, France

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status was stable and the TMB was low with 6.3 variants/Mb. Because of the allele frequency of the missense variant which was not tested in the initial germline mutation, we performed an NGS on patient DNA that confirmed a germline mutation. The disease

Article Type:
Case Report
Collections:
Thyroid cancer - basic and translational
DOI:
https://doi.org/10.1530/ETJ-22-0044
Volume/Issue:
Volume 11: Issue 5
Open 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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shown). Discussion SDHx variants can be associated with PTC [ 13 ]. In addition, approximately 12% of the wild-type GIST without personal or family history of paraganglioma have germline mutations in SDHB or SDHC [ 32 ]. We described a

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000444522
Volume/Issue:
Volume 5: Issue 2
Free access
Minoru Kihara Departments of Surgery, Kobe, Japan

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Akira Miyauchi Departments of Surgery, Kobe, Japan

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Hiroshi Yoshida Research, Kuma Hospital, Kobe, Japan

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Osamu Yamada Departments of Surgery, Kobe, Japan

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Hiroo Masuoka Departments of Surgery, Kobe, Japan

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Tomonori Yabuta Departments of Surgery, Kobe, Japan

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Takuya Higashiyama Departments of Surgery, Kobe, Japan

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Mitsuhiro Fukushima Departments of Surgery, Kobe, Japan

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Yasuhiro Ito Departments of Surgery, Kobe, Japan

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Kaoru Kobayashi Departments of Surgery, Kobe, Japan

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Akihiro Miya Departments of Surgery, Kobe, Japan

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sporadic or hereditary variant [ 1 ]. Hereditary MTC arises as a component of multiple endocrine neoplasia (MEN) type 2A or 2B or as familial MTC (FMTC). These are genetic tumor syndromes caused by germline mutations in the RET proto-oncogene and are

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000369134
Volume/Issue:
Volume 3: Issue 4
Free access
Markus Eszlinger Department of Oncology and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Heritage Medical Research Building, Calgary, Alberta, Canada, and Institute of Pathology, University Hospital Halle, Halle, Germany

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Alexandra Stephenson Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Heritage Medical Research Building, Calgary, Alberta, Canada

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Shideh Mirhadi Program in Cell Biology, Hospital for Sick Children, and Department of Molecular Genetics, University of Toronto, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada

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Konrad Patyra Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland

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Michael F Moran Program in Cell Biology, Hospital for Sick Children, and Department of Molecular Genetics, University of Toronto, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada

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Moosa Khalil Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

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Jukka Kero Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland
Department of Pediatrics, Turku University Hospital, Turku, Finland

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Ralf Paschke Department of Oncology and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Heritage Medical Research Building, Calgary, Alberta, Canada, and Institute of Pathology, University Hospital Halle, Halle, Germany
Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Heritage Medical Research Building, Calgary, Alberta, Canada
Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
Department of Medicine, Cumming School of Medicine, University of Calgary, Heritage Medical Research Building, Calgary, Alberta, Canada

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Introduction Nonautoimmune hyperthyroidism (NAH) is caused by a constitutively activating thyroid stimulating hormone receptor (TSHR) germline mutation. Germline mutations in TSHR lead to sporadic and familial NAH (SNAH, FNAH) whereas somatic

Article Type:
Research Article
Collections:
Thyroid cancer - basic and translational
DOI:
https://doi.org/10.1530/ETJ-23-0049
Volume/Issue:
Volume 12: Issue 6
Open 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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variant) ( 17 , 18 , 28 , 29 , 30 ). Patients with germline mutations in thyroid cancer predisposition syndromes, such as PTEN Hamartoma Tumor Syndrome and DICER1 syndrome, were excluded from the analysis. Preoperative features, clinicopathologic

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