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  • Rearranged during transfection mutation x
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Grace Segall Eli Lilly and Company, Indianapolis, IN, USA

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Ravinder Singh Eli Lilly and Company, Indianapolis, IN, USA

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Min-Hua Jen Eli Lilly and Company, Indianapolis, IN, USA

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Isaac Sanderson Adelphi Real World, Bollington, UK

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Alex Rider Adelphi Real World, Bollington, UK

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Katie Lewis Adelphi Real World, Bollington, UK

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Urpo Kiiskinen Eli Lilly and Company, Indianapolis, IN, USA

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). Most cases of MTC carry mutations in the proto-oncogene known as rearranged during transfection ( RET ), which can be either germline (in ≥95% of patients with hereditary MTC) or somatic (in about half of cases of sporadic MTC) ( 5 , 8 , 9 , 10 , 11

Article Type:
Research Article
Collections:
Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-23-0172
Volume/Issue:
Volume 13: Issue 1
Open 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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pT1, N1, M0, G2, R0. Conventional Sanger sequencing (peripheral blood-derived genomic DNA) of the RET (rearranged during transfection) gene identified the well-characterized heterozygous pathogenic missense mutation p.Val804Met (c.2410G>A). Moreover

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000443730
Volume/Issue:
Volume 5: Issue 1
Free access
Francesca Carlomagno Dipartimento di Biologia e Patologia Cellulare e Molecolare L. Califano, Università degli Studi di Napoli Federico II, Napoli, Italia

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Introduction The RET (rearranged during transfection) gene is located on chromosome 10q11.2 straddling a region of around 55,000 bp and is composed of 21 exons. The gene codes for a transmembrane protein belonging to the receptor tyrosine

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000336975
Volume/Issue:
Volume 1: Issue 1
Free access
Carles Zafon Department of Endocrinology, Hospital Vall d'Hebron, and Diabetes and Metabolism Research Unit, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona and CIBERDEM (ISCIII), Barcelona

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Juan J. Díez Department of Endocrinology and Nutrition, Hospital Ramón y Cajal
Department of Medicine, University of Alcalá de Henares, Madrid

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Juan C. Galofré Department of Endocrinology and Nutrition, Clínica Universidad de Navarra, University of Navarra, Pamplona, Spain
IdiSNA (Instituto de investigación en la salud de Navarra), Pamplona, Spain

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David S. Cooper Division of Endocrinology, Diabetes and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

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information illustrates that the combination of BRAF and TERT promoter mutations confers a particularly aggressive phenotype [ 36 , 37 ]. Other genetic alterations such as RET (rearranged during transfection)/PTC rearrangements [ 38 ], TP53 [ 17 , 39

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000457793
Volume/Issue:
Volume 6: Issue 2
Free access
Else Marie Opsahl Section of Breast and Endocrine Surgery, Department of Oncology, Oslo University Hospital, Oslo, Norway
Institute of Clinical Medicine, University of Oslo, Oslo, Norway

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Lars Andreas Akslen Section for Pathology, Department of Clinical Medicine, Centre for Cancer Biomarkers CCBIO, University of Bergen, Bergen, Norway
Department of Pathology, Haukeland University Hospital Bergen, Bergen, Norway

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Ellen Schlichting Section of Breast and Endocrine Surgery, Department of Oncology, Oslo University Hospital, Oslo, Norway

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Turid Aas Department of Breast and Endocrine Surgery, Haukeland University Hospital, Bergen, Norway

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Katrin Brauckhoff Department of Breast and Endocrine Surgery, Haukeland University Hospital, Bergen, Norway

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Anne Irene Hagen Department of Breast and Endocrine Surgery, St. Olavs University Hospital, Trondheim, Norway

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Alf Frimann Rosenlund Section of Breast and Endocrine Surgery, Department of Surgery, University Hospital of North Norway, Tromsø, Norway

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Eva Sigstad Department of Pathology, Oslo University Hospital, Oslo, Norway

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Krystyna K. Grøholt Department of Pathology, Oslo University Hospital, Oslo, Norway

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Lovise Mæhle Department of Medical Genetics, Oslo University Hospital, Oslo, Norway

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Lars Fredrik Engebretsen Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
Department of Medical Genetics, St. Olavs University Hospital, Trondheim, Norway

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Lars H. Jørgensen Department of Thoracic Surgery, Oslo University Hospital, Oslo, Norway

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Jan Erik Varhaug Department of Clinical Science, University of Bergen, Bergen, Norway

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Trine Bjøro Institute of Clinical Medicine, University of Oslo, Oslo, Norway
Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway

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neoplasia type 2A (MEN2A) (90–95%) and type 2B (MEN2B) (5–10%), autosomal dominant syndromes caused by a germline mutation in the REarranged during Transfection ( RET ) proto-oncogene [ 1 , 4 - 8 ]. Major studies have shown that age at the time of

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000493977
Volume/Issue:
Volume 8: Issue 1
Free access
Carla Gambale Department of Clinical and Experimental Medicine, Unit of Endocrinology, Pisa University Hospital, Pisa, Italy

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Alessandro Prete Department of Clinical and Experimental Medicine, Unit of Endocrinology, Pisa University Hospital, Pisa, Italy

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Chiara Romei Department of Diagnostic Imaging, Unit of Radiology, Pisa University Hospital, Pisa, Italy

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Alessandro Celi Department of Surgery, Medicine, Molecular Biology and Critical Care, Respiratory Pathophysiology Unit, Pisa University Hospital, Pisa, Italy

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

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Antonio Matrone Department of Clinical and Experimental Medicine, Unit of Endocrinology, Pisa University Hospital, Pisa, Italy

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patients. Introduction Medullary thyroid cancer (MTC) originates from thyroid C cells producing calcitonin (CTN) and is classified as a neuroendocrine tumor. MTC can be sporadic or hereditary, with the rearranged during transfection proto

Article Type:
Case Report
Collections:
Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-24-0189
Volume/Issue:
Volume 13: Issue 5
Open access
Lars Bastholt Department of Oncology R, Odense University Hospital, Odense, Denmark

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Michael C. Kreissl Department of Nuclear Medicine, Augsburg Hospital, Augsburg
Department of Nuclear Medicine, University Hospital Würzburg, Würzburg

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Dagmar Führer Department of Endocrinology and Metabolism, University Hospital Essen, Essen, Germany

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Ana L. Maia Serviço de Endocrinologia, Hospital de Clínicas de Porto Alegre, Porto Alegre

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Laura D. Locati Fondazione IRCCS - Istituto Nazionale dei Tumori, Milan

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Léa Maciel Hospital das Clínicas de Ribeirăo Preto, Ribeirăo Preto, Brazil

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Yi Wu Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China

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Kevin N. Heller AstraZeneca, Gaithersburg, Md., USA

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Alan Webster AstraZeneca, Macclesfield, UK

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

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the rearranged-during-transfection (RET) proto-oncogene as a rational therapeutic target in MTC [ 1 , 5 , 6 , 7 , 8 , 9 , 10 ]. In addition to RET, vascular endothelial growth factor receptor (VEGFR) and epidermal growth factor receptor (EGFR) likely

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000448919
Volume/Issue:
Volume 5: Issue 3
Free access
Francesca Orsolini Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Alessandro Prete Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Pierpaolo Falcetta Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Domenico Canale Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Fulvio Basolo Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy

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Greta Alì Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy

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Francesca Manassero Division of Urology, Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy

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Paolo Vitti Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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

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Eleonora Molinaro Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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mutation of the REarranged during Transfection ( RET ) proto-oncogene, mostly located in the extracellular, cysteine-rich region of exon 10 (including codons 609, 611, 618 and 620) and exon 11 (including codons 630 and 634) of the gene ( 1 , 2 , 3 , 4

Article Type:
Case Report
Collections:
Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-21-0016
Volume/Issue:
Volume 11: Issue 2
Open access
Zoe A. Efstathiadou Department of Endocrinology, “Hippokration” General Hospital of Thessaloniki, Thessaloniki, Greece

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Charalambos Tsentidis Department of Endocrinology, General Hospital of Nikaia “Agios Panteleimon”, Piraeus, Greece

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Alexandra Bargiota Department of Endocrinology, University of Thessaly, Larisa, Greece

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Vasiliki Daraki Department of Endocrinology, University Hospital of Crete, Heraklion, Greece

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Kalliopi Kotsa Department of Endocrinology, “Ahepa” Hospital, Aristotle University, Thessaloniki, Greece

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Georgia Ntali Department of Endocrinology, Diabetes and Metabolism, “Evangelismos” Hospital Athens, Athens, Greece

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Labrini Papanastasiou Department of Endocrinology and Diabetes Center, Athens General Hospital “G. Gennimatas”, Athens, Greece

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Stelios Tigas Department of Endocrinology, University of Ioannina, Ioannina, Greece

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Konstantinos Toulis Department of Endocrinology, 424 Military Hospital, Thessaloniki, Greece

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Kalliopi Pazaitou-Panayiotou Division of Endocrinology, Endocrine Oncology, Interbalkan Medical Center, Thessaloniki, Greece

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Maria Alevizaki Endocrine Unit, Department of Medical Therapeutics, School of Medicine, Kapodistrian University of Athens, Athens, Greece

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]. RET (rearranged during transfection) proto-oncogene mutations play a key role in the pathogenesis of the disease. RET encodes a single-pass transmembrane protein receptor that belongs to receptor tyrosine kinase family. Activating germline mutations

Article Type:
Meta Analysis
DOI:
https://doi.org/10.1159/000509457
Volume/Issue:
Volume 10: Issue 2
Free access
Camille Buffet Department of Thyroid Pathologies and Endocrine Tumors, AP-HP, Pitié-Salpêtrière Hospital, Groupe de Recherche Clinique n°16 Tumeurs Thyroïdiennes, Sorbonne Université, Paris, France
UMR9019, Genome Integrity and Cancers, CNRS, Villejuif, France

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Sophie Leboulleux Department of Nuclear Medicine and Endocrine Oncology, Gustave Roussy Institut, Villejuif, France

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Françoise Kraeber-Bodéré Nuclear Medicine Department, Université de Nantes, CHU de Nantes, CNRS, Inserm, CRCINA, Nantes, France
CHU Nantes/ICO, Saint-Herblain, France

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Caroline Bodet-Milin Nuclear Medicine Department, Université de Nantes, CHU de Nantes, CNRS, Inserm, CRCINA, Nantes, France
CHU Nantes/ICO, Saint-Herblain, France

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Laure Cabanes Department of Cardiology, APHP, Cochin Hospital, Paris, France
Université de Paris, Paris, France

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Anthony Dohan Radiology Department, Université de Paris, Paris, France
Department of Radiology, AP-HP, Hôpital Cochin, Paris, France

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Pascal Leprince Department of Thoracic and Cardiovascular Surgery, Sorbonne Université, AP-HP, Pitié-Salpêtrière Hospital, Paris, France

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Martin Schlumberger UMR9019, Genome Integrity and Cancers, CNRS, Villejuif, France
Department of Nuclear Medicine and Endocrine Oncology, Gustave Roussy Institute, Villejuif, France

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Olivier Huillard Université de Paris, Sorbonne Paris Cité, Paris, France
Department of Medical Oncology, AP-HP, Hôpital Cochin, Paris, France

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Lionel Groussin INSERM Unité 1016, CNRS UMR 8104, Institut Cochin, Paris, France
Université de Paris, Paris, France
Department of Endocrinology, AP-HP, Hôpital Cochin, Paris, France

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-thyroidal extension and massive lymph node metastases pT1b(s)N1b (AJCC/TNM cancer staging system 8th edition) [ 7 ]. Germline REarranged during Transfection ( RET ) gene analysis was negative. After a 3-year period of complete remission (calcitonin: 1 pg/mL), a

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000517716
Volume/Issue:
Volume 10: Issue 6
Open access