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Nikita Pozdeyev Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA
Division of Biomedical Informatics & Personalized Medicine, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA

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Lauren Fishbein Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA
Division of Biomedical Informatics & Personalized Medicine, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA

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Laurie M Gay Foundation Medicine Inc., Cambridge, Massachusetts, USA

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Ethan S Sokol Foundation Medicine Inc., Cambridge, Massachusetts, USA

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Ryan Hartmaier Foundation Medicine Inc., Cambridge, Massachusetts, USA

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Jeffrey S Ross Foundation Medicine Inc., Cambridge, Massachusetts, USA
Departments of Pathology and Urology, Upstate Medical University, Syracuse, New York, USA

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Sourat Darabi Hoag Family Center Institute, Newport Beach, California, USA

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Michael J Demeure Hoag Family Center Institute, Newport Beach, California, USA
Translational Genomics Research Institute, Phoenix, Arizona, USA

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Adwitiya Kar Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA

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Lindsey J Foust Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA

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Katrina Koc Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA

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Daniel W Bowles Division of Medical Oncology, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus, Aurora, Colorado, USA

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Stephen Leong Division of Medical Oncology, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus, Aurora, Colorado, USA

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Margaret E Wierman Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA
Research Service Veterans Affairs Medical Center, Aurora, Colorado, USA

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Katja Kiseljak-Vassiliades Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA
Research Service Veterans Affairs Medical Center, Aurora, Colorado, USA

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identifying novel genetic alterations and understanding the percent targetable alterations for therapeutic intervention. Our analysis confirmed the commonly known pathway alterations in ACC and identified several novel somatic alterations. Importantly, we

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Soazig Le Pennec IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Tomasz Konopka IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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David Gacquer IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Danai Fimereli IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Maxime Tarabichi IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Gil Tomás IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Frédérique Savagner IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium
IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Myriam Decaussin-Petrucci IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Christophe Trésallet IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Guy Andry IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Denis Larsimont IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Vincent Detours IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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Carine Maenhaut IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium
IRIBHM, WELBIO, CHU d'Angers, EA 3143, Service d'Anatomie et Cytologie Pathologiques, Hôpital Pitié-Salpêtrière, Institut Jules Bordet, Université libre de Bruxelles (ULB), Campus Erasme, 808 Route de Lennik, 1070 Brussels, Belgium

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the basis of multiple genetic alterations, i.e. non-synonymous single-nucleotide variants (nsSNVs), gene fusions, alternative transcripts, and loss of heterozygosity (LOH). Materials and methods Case description A 71-year-old male was diagnosed with a

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Iñigo Landa Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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Cristina Montero-Conde Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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Donatella Malanga Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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Silvia De Gisi Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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Guillermo Pita Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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Luis-Javier Leandro-García Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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Lucía Inglada-Pérez Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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Rocío Letón Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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Carmela De Marco Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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Cristina Rodríguez-Antona Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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Giuseppe Viglietto Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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Mercedes Robledo Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain
Hereditary Endocrine Cancer Group, University Magna Graecia, Institute for Genetic Research IRGS, Genotyping Unit, ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Human Cancer Genetics Programme, Spanish National Cancer Centre, Centro Nacional de Investigaciones Oncológicas (CNIO), Calle Melchor Fernández Almagro, 3, 28029 Madrid, Spain

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tumours (3%), referred to as ‘medullary thyroid carcinoma’ (MTC), arise from a different cell lineage, the parafollicular or C-cells, which are involved in calcitonin secretion ( Randolph & Maniar 2000 ). Different genetic alterations, all of them

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Susan J Hsiao Division of Molecular and Genomic Pathology, Department of Pathology, University of Pittsburgh School of Medicine, 3477 Euler Way, Room 8031, Pittsburgh, Pennsylvania 15213, USA

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Yuri E Nikiforov Division of Molecular and Genomic Pathology, Department of Pathology, University of Pittsburgh School of Medicine, 3477 Euler Way, Room 8031, Pittsburgh, Pennsylvania 15213, USA

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discussed in further detail below. Utility of mutational molecular markers in preoperative FNA samples BRAF and RAS point mutations and RET/PTC and PAX8/PPARγ rearrangements are the most common genetic alterations found in thyroid cancer and have been

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Valdemar Máximo Institute of Pathology and Immunology of the University of Porto (IPATIMUP), Department of Pathology, Portugese Institute of Oncology, Department of Pathology, Rua Roberto Frias s/n, 4200-465 Porto, Portugal
Institute of Pathology and Immunology of the University of Porto (IPATIMUP), Department of Pathology, Portugese Institute of Oncology, Department of Pathology, Rua Roberto Frias s/n, 4200-465 Porto, Portugal

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Jorge Lima Institute of Pathology and Immunology of the University of Porto (IPATIMUP), Department of Pathology, Portugese Institute of Oncology, Department of Pathology, Rua Roberto Frias s/n, 4200-465 Porto, Portugal
Institute of Pathology and Immunology of the University of Porto (IPATIMUP), Department of Pathology, Portugese Institute of Oncology, Department of Pathology, Rua Roberto Frias s/n, 4200-465 Porto, Portugal

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Hugo Prazeres Institute of Pathology and Immunology of the University of Porto (IPATIMUP), Department of Pathology, Portugese Institute of Oncology, Department of Pathology, Rua Roberto Frias s/n, 4200-465 Porto, Portugal
Institute of Pathology and Immunology of the University of Porto (IPATIMUP), Department of Pathology, Portugese Institute of Oncology, Department of Pathology, Rua Roberto Frias s/n, 4200-465 Porto, Portugal

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Paula Soares Institute of Pathology and Immunology of the University of Porto (IPATIMUP), Department of Pathology, Portugese Institute of Oncology, Department of Pathology, Rua Roberto Frias s/n, 4200-465 Porto, Portugal
Institute of Pathology and Immunology of the University of Porto (IPATIMUP), Department of Pathology, Portugese Institute of Oncology, Department of Pathology, Rua Roberto Frias s/n, 4200-465 Porto, Portugal

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Manuel Sobrinho-Simões Institute of Pathology and Immunology of the University of Porto (IPATIMUP), Department of Pathology, Portugese Institute of Oncology, Department of Pathology, Rua Roberto Frias s/n, 4200-465 Porto, Portugal
Institute of Pathology and Immunology of the University of Porto (IPATIMUP), Department of Pathology, Portugese Institute of Oncology, Department of Pathology, Rua Roberto Frias s/n, 4200-465 Porto, Portugal
Institute of Pathology and Immunology of the University of Porto (IPATIMUP), Department of Pathology, Portugese Institute of Oncology, Department of Pathology, Rua Roberto Frias s/n, 4200-465 Porto, Portugal

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divided for the sake of simplicity into two categories: genetic alterations that are linked with the three main histotypes of follicular cell-derived thyroid carcinomas (FTC, PTC, and PDTC) and the genetic alterations that are linked to the acquisition of

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C Christofer Juhlin Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Department of Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden

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Ozgur Mete Department of Pathology, University Health Network, Toronto, ON, Canada
Endocrine Oncology Site, Princess Margaret Cancer Centre, Toronto, ON, Canada
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada

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Zubair W Baloch Department of Pathology & Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

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signaling, indicating a relationship between FTCs and FVPTCs ( Wong et al. 2021 ). In the process of dedifferentiation, additional genetic alterations are usually seen in DHGTCs and PDTCs, including TERT promoter and TP53 gene mutations ( Paulsson et

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Y M H Jonkers
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S M H Claessen
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A Perren
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A M Schmitt
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L J Hofland
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W de Herder
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R R de Krijger
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A A J Verhofstad
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A R Hermus
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J A Kummer
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M Volante
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F C S Ramaekers
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E J M Speel
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the most optimal indicator of tumor-specific death in the other EPTs. From previous studies, it has become clear that malignant progression of EPTs is associated with an accumulation of genetic alterations ( Speel et al. 1999 , 2001

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Raffaele Ciampi
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Thomas J Giordano
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Kathryn Wikenheiser-Brokamp
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Ronald J Koenig
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Yuri E Nikiforov
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Introduction Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer and accounts for ~80% of all thyroid malignancies ( Hundahl et al. 2000 ). Genetic alterations along the RET/RAS/BRAF/ MAPK signaling

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Katarina Edfeldt Departments of Surgical Sciences, Medical Sciences, Uppsala University Hospital, Uppsala University, Entrance 70, 3 tr, SE-75185 Uppsala, Sweden

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Tanveer Ahmad Departments of Surgical Sciences, Medical Sciences, Uppsala University Hospital, Uppsala University, Entrance 70, 3 tr, SE-75185 Uppsala, Sweden

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Göran Åkerström Departments of Surgical Sciences, Medical Sciences, Uppsala University Hospital, Uppsala University, Entrance 70, 3 tr, SE-75185 Uppsala, Sweden

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Eva Tiensuu Janson Departments of Surgical Sciences, Medical Sciences, Uppsala University Hospital, Uppsala University, Entrance 70, 3 tr, SE-75185 Uppsala, Sweden

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Per Hellman Departments of Surgical Sciences, Medical Sciences, Uppsala University Hospital, Uppsala University, Entrance 70, 3 tr, SE-75185 Uppsala, Sweden

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Peter Stålberg Departments of Surgical Sciences, Medical Sciences, Uppsala University Hospital, Uppsala University, Entrance 70, 3 tr, SE-75185 Uppsala, Sweden

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Peyman Björklund Departments of Surgical Sciences, Medical Sciences, Uppsala University Hospital, Uppsala University, Entrance 70, 3 tr, SE-75185 Uppsala, Sweden

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Gunnar Westin Departments of Surgical Sciences, Medical Sciences, Uppsala University Hospital, Uppsala University, Entrance 70, 3 tr, SE-75185 Uppsala, Sweden

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endocrine tumors . Genes, Chromosomes & Cancer 47 84 – 92 . ( doi:10.1002/gcc.20510 ). Kulke MH Freed E Chiang DY Philips J Zahrieh D Glickman JN Shivdasani RA 2008 High-resolution analysis of genetic alterations in small bowel

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Nitya Raj Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Youyun Zheng Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Haley Hauser Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Joanne Chou Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Johnathan Rafailov Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Jad Bou-Ayache Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Peter Sawan Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Jamie Chaft Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Jennifer Chan Dana-Farber Cancer Institute, Boston, Massachusetts, USA

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Kimberly Perez Dana-Farber Cancer Institute, Boston, Massachusetts, USA

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Charles Rudin Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Laura Tang Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Diane Reidy-Lagunes Memorial Sloan Kettering Cancer Center, New York, New York, USA

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during treatment with ribociclib and everolimus. In correlative analyses, there was no association between genetic alterations in the tumor of patients experiencing disease stabilization vs progressive disease during treatment with this drug combination

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