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Markus Eszlinger Departments of Oncology, Pathology and Laboratory Medicine, Biochemistry and Molecular Biology, and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Heritage Medical Research Building, Calgary, Alberta, Canada
Institute of Pathology, University Hospital Halle (Saale), Halle (Saale), Germany

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Paul Stewardson Department of Medical Science and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada

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John B McIntyre Precision Oncology Hub Laboratory, Alberta Health Services, Tom Baker Cancer Centre, Calgary, Alberta, Canada

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Adrian Box Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada

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

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Martin Hyrcza Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada

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Konstantin Koro Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada

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Dean Ruether Section of Medical Oncology, Department of Oncology, Cumming School of Medicine, University of Calgary, Calgary, Canada

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Jiahui Wu Department of Medical Science and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada

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

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Introduction The neurotrophic tyrosine kinase receptor (NTRK) inhibitors, larotrectinib and entrectinib, were approved by the United States Food & Drug Administration (FDA) for the treatment of NTRK fusion-positive solid tumors that are

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Research Article
Collections:
Thyroid cancer - basic and translational
DOI:
https://doi.org/10.1530/ETJ-21-0061
Volume/Issue:
Volume 11: Issue 1
Open access
Abdul Rehman Syed University of Calgary, Calgary, Alberta, Canada

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Aakash Gorana Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Alberta, Canada

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Erik Nohr Alberta Precision Laboratories, Molecular Pathology Program, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

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Xiaoli-Kat Yuan Precision Oncology Hub Laboratory, Tom Baker Cancer Centre, Calgary, Alberta, Canada

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Parthiv Amin MASc Department of Radiology, Cumming School of Medicine, University of Calgary, Calgary Alberta, Canada

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Sana Ghaznavi Arnie Charbonneau Cancer Institute, Department of Medicine, Section of Endocrinology, University of Calgary, Calgary, Alberta, Canada

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Debbie Lamb Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Alberta, Canada

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John McIntyre Precision Oncology Hub Laboratory, Tom Baker Cancer Centre, Calgary, Alberta, Canada

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Markus Eszlinger Department of Oncology, Cumming School of Medicine, and Arnie Charbonneau Cancer Institute, University of Calgary, Calgary, Alberta, Canada

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Ralf Paschke Departments of Medicine, Section of Endocrinology, Oncology, Pathology and Laboratory Medicine, Biochemistry and Molecular Biology and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

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). Recently, this strategy was extended to rarer oncogenic fusion genes like RET and NTRK1/2/3 rearrangements using the RET inhibitor selpercatinib and the NTRK inhibitor larotrectinib ( 6 , 8 , 9 ). The first instance of RAI uptake restoration leading

Article Type:
Research Article
Collections:
Thyroid cancer - basic and translational
DOI:
https://doi.org/10.1530/ETJ-23-0227
Volume/Issue:
Volume 13: Issue 3
Open access
Inês Damásio Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Joana Simões-Pereira Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Sara Donato Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal
Nova Medical School, Lisbon, Portugal

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Mariana Horta Radiology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon Portugal

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Branca Maria Cavaco Molecular Pathobiology Research Unit (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Miguel Rito Pathology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Pedro Gomes Head and Neck Surgery Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Valeriano Leite Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal
Nova Medical School, Lisbon, Portugal

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clinicians and patients, by providing specific therapeutic targets that may allow for individualized therapy. Gene fusions involving the neutrotrophic tropomyosin receptor kinase ( NTRK ) gene family – NTRK1 , NTRK2 , and NTRK3 – lead to oncogenesis by

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Case Report
Collections:
Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-22-0179
Volume/Issue:
Volume 12: Issue 1
Open access
Min Ren Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Qianlan Yao Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Longlong Bao Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Zhiting Wang Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Ran Wei Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Qianming Bai Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Bo Ping Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Cai Chang Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Department of Ultrasound, Fudan University Shanghai Cancer Center, Shanghai, China

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Yu Wang Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China

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Xiaoyan Zhou Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Xiaoli Zhu Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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.1%), NRAS gene (2.3%), TP53 (1.8%), and NTRK3 fusions (1.4%). The detailed overall mutation profiling was shown in Fig. 1 . Figure 1 Mutation profiling of 217 surgical resection samples by multigene NGS testing. Mutated genes included BRAF, RET

Article Type:
Research Article
Collections:
Genetics and omics in thyroidology
DOI:
https://doi.org/10.1530/ETJ-21-0124
Volume/Issue:
Volume 11: Issue 3
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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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
Hélène Théodon Department of Thyroid and Endocrine Tumors, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France

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Erell Guillerm Department of Oncogenetic, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France

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Johanna Wassermann Department of Oncology, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France

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Gabrielle Deniziaut Department of Pathology, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France

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Loïc Jaffrelot Department of Oncology, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France

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Jérome Denis Department of Endocrine and Oncology Biochemistry, Sorbonne Université, Pitié-Salpêtrière Hospital, Paris, France

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Nathalie Chereau Department of Endocrine Surgery, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France

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Claude Bigorgne Department of Pathology, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France

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Wiame Potonnier Department of Pathology, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France

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Florence Coulet Department of Oncogenetic, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France

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Laurence Leenhardt Department of Thyroid and Endocrine Tumors, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France

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Camille Buffet Department of Thyroid and Endocrine Tumors, Sorbonne Université, GRC n°16, GRC Tumeurs Thyroïdiennes, Pitié-Salpêtrière Hospital, Paris, France

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, 2 ). Today, tumor molecular genotyping plays a key role in the management of radioactive iodine refractory (RAIR) thyroid cancers, as patients with cancers harboring a specific mutation or fusion can be offered highly specific targeted therapies ( 3

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Research Article
Collections:
Thyroid cancer - basic and translational
DOI:
https://doi.org/10.1530/ETJ-23-0164
Volume/Issue:
Volume 13: Issue 1
Open access
Jihwan Yoo Department of Neurosurgery, Brain Tumor Center, Gangnam Severance Hospital, Seoul, Republic of Korea
College of Medicine, Yonsei University, Seoul, Republic of Korea

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Hee Jun Kim Department of Surgery, CHA Ilsan Medical Center, Cha University School of Medicine, Goyang-si, Republic of Korea

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Seok Mo Kim Department of Surgery, Thyroid Cancer Center, Gangnam Severance Hospital, Institute of Refractory Thyroid Cancer, Yonsei University College of Medicine, Seoul, Republic of Korea

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Hun Ho Park Department of Neurosurgery, Brain Tumor Center, Gangnam Severance Hospital, Seoul, Republic of Korea

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reported to have neurotrophic tropomyosin receptor kinase (NTRK) fusions ( 27 ). In a pooled analysis of 1/2 clinical trials, 79% of 24 patients with DTC bearing an NTRK fusion who received larotrectinib demonstrated an objective response ( 28 ). Pitoia

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Research Article
Collections:
Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-22-0087
Volume/Issue:
Volume 11: Issue 5
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Laura Fugazzola Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

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Maurilio Deandrea Endocrinology, Diabetes and Metabolism Department and Center for Thyroid Diseases, Ordine Mauriziano Hospital, Turin, Italy

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Stefano Borgato Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Marco Dell’Acqua Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Francesca Retta Endocrinology, Diabetes and Metabolism Department and Center for Thyroid Diseases, Ordine Mauriziano Hospital, Turin, Italy

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Alberto Mormile Endocrinology, Diabetes and Metabolism Department and Center for Thyroid Diseases, Ordine Mauriziano Hospital, Turin, Italy

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Chiara Carzaniga Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Giacomo Gazzano Pathology Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Gabriele Pogliaghi Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

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Marina Muzza Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Luca Persani Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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; HRASG13C, HRASQ61K, and HRASQ61R; KRASG12V and KRASG13C; TERT c.-124C>T and TERT c.-146C>T; PIK3CAE542K and six recurrent fusion genes typical of PTC: RET/PTC1 (RET/CCDC6), RET/PTC2 (RET/PRKAR1A), and RET/PTC3 (RET/NCOA4); TRK (NTRK1/TPM3), TRK-T1 (NTRK

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Collections:
Goiter and thyroid nodules
DOI:
https://doi.org/10.1530/ETJ-24-0020
Volume/Issue:
Volume 13: Issue 3
Open access
Pepijn van Houten Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, the Netherlands

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James Nagarajah Roentgeninstitut Duesseldorf, Duesseldorf, Germany
Department of Radiology and Nuclear Medicine, Radboud University Medical Center, Nijmegen, the Netherlands

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Janneke E W Walraven Department of Medical Oncology, Radboud University Medical Center, Nijmegen, the Netherlands

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Martin Jaeger Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, the Netherlands

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Adriana C H van Engen-van Grunsven Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands

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Johannes W Smit Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, the Netherlands

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Romana T Netea-Maier Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, the Netherlands
Research Center for Functional Genomics, Biomedicine and Translational Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

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Retrospective cohort study Various PTC, FTC, PDTC BRAF V600E , NRAS 6 4/6 Lee et al. ( 16 ) Larotrectinib or Selpercatinib Case series 4–5 months Pediatric PTC NTRK rearrangement or RET fusion 2 2/2 Groussin et al

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Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-24-0153
Volume/Issue:
Volume 13: Issue 4
Open access
Daniela Dias Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Inês Damásio Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Pedro Marques Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte (CHULN), Lisbon, Portugal

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Helder Simões Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Ricardo Rodrigues Unidade de Investigação em Patobiologia Molecular (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Branca Maria Cavaco Unidade de Investigação em Patobiologia Molecular (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Valeriano Leite Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal
Unidade de Investigação em Patobiologia Molecular (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal
Nova Medical School: Faculdade de Ciências Médicas da Universidade Nova de Lisboa, Lisbon, Portugal

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.1016/j.annonc.2021.12.014 ) 11 Doebele RC Drilon A Paz-Ares L Siena S Shaw AT Farago AF Blakely CM Seto T Cho BC Tosi D , Entrectinib in patients with advanced or metastatic NTRK fusion-positive solid tumours: integrated analysis of three phase 1

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Case Report
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Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-22-0227
Volume/Issue:
Volume 12: Issue 3
Open access