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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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). Germline RET mutations are present in up to 10% of patients with apparently sporadic MTCs ( 5 , 10 ). European Society for Medical Oncology (ESMO) guidelines recommend that screening for RET mutations should be strongly considered in all patients with

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
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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What Is Known about This Topic? • To date, there is only one report of a double RET mutation, i.e. V804M/Y806C, in a patient with the MEN 2B phenotype. • Previous in vitro studies have suggested that these double mutations are on the same

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000369134
Volume/Issue:
Volume 3: Issue 4
Free access
Marine Sitbon Pharmacy Department, Hospital Saint-Louis APHP, Paris, France

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Porhuoy Chou Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Seydou Bengaly Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Brigitte Poirot Department of Molecular Oncology, Saint-Louis Hospital (AP-HP), Université Paris Cité INSERM U 944, CNRS UMR 7212, Paris, France

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Marie Laloi-Michelin Department of Internal Medicine, Hospital Lariboisière APHP, Paris, France

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Laure Deville Pharmacy Department, Hospital Saint-Louis APHP, Paris, France

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Atanas Pachev Radiology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Ahouefa Kowo-Bille Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Clement Dumont Medical Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Cécile N Chougnet Endocrine Oncology Department, Saint-Louis Hospital (AP-HP), Université Paris Cité, Paris, France

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Established facts Paraneoplastic Cushing’s syndrome is dangerous and can be life-threatening. There are few results regarding the efficacy of RET inhibitor treatment in medullary thyroid carcinoma (MTC) with RET mutation

Article Type:
Case Report
Collections:
Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-22-0032
Volume/Issue:
Volume 11: Issue 6
Open access
R. Elisei Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy

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M. Alevizaki Endocrine Unit, Department of Medical Therapeutics, Athens University School of Medicine, Athens, Greece

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B. Conte-Devolx Department of Endocrinology, La Timone Hospital, Aix Marseille University, Marseille, France

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K. Frank-Raue Endocrine Practice, Molecular Laboratory, Heidelberg, Germany

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V. Leite Department of Endocrinology, Portuguese Institute of Oncology and CEDOC, Faculty of Medical Sciences, Lisbon, Portugal

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G.R. Williams Molecular Endocrinology Group, Department of Medicine, Hammersmith Hospital, Imperial College London, London, UK

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determined to exclude secondary hyperparathyroidism (QOE = ++; SOR = score 1). (c) If the RET mutational status cannot be obtained before surgery, the 24-hour urinary catecholamine and metanephrine measurements should be necessarily performed to exclude

Article Type:
Guideline
DOI:
https://doi.org/10.1159/000346174
Volume/Issue:
Volume 1: 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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.Tyr826Ser as predisposing RET variant. Patients with a compound heterozygosity of an established pathogenic RET mutation in combination with this novel variant seem to be at a higher risk of developing FMTC. The malignant risk of patients carrying

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000443730
Volume/Issue:
Volume 5: Issue 1
Free access
Simona Censi Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Elisabetta Cavedon Familial Tumor Unit, Veneto Institute of Oncology, (IOV)-IRCCS, Padua, Italy

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Sara Watutantrige-Fernando Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Susi Barollo Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Loris Bertazza Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Jacopo Manso Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Maurizio Iacobone Surgery Unit, Department of Surgical, Oncological and Gastroenterological Sciences (DiSCOG), University of Padua, Padua, Italy

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Davide Nacamulli Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Francesca Galuppini Surgical Pathology & Cytopathology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Gianmaria Pennelli Surgical Pathology & Cytopathology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Caterina Mian Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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patients carrying different somatic RET mutations or RET wild type, and with RET-mutated cell lines (Fig.  3 ). Fig. 2. Histological and immunohistochemical features of the present case. a Thyroid follicles were documented within the lesion and

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000494675
Volume/Issue:
Volume 8: Issue 2
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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Medullary thyroid carcinoma (MTC) is a rare but aggressive thyroid tumor, with 25% of hereditary and 75% of sporadic forms. RET mutations are found in 98% of hereditary MTC and in 55% of sporadic MTC ( 1 ). The most frequent somatic RET

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
Renata Alencar Endocrinology Service, Department of Medicine, Instituto Nacional do Cancer (INCA), Rio de Janeiro, Brazil
Endocrinology Service, Department of Medicine, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, Brazil

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Daniel Barretto Kendler Endocrinology Service, Department of Medicine, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, Brazil

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Fernanda Andrade Endocrinology Service, Department of Medicine, Instituto Nacional do Cancer (INCA), Rio de Janeiro, Brazil

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Carla Nava Endocrinology Service, Department of Medicine, Instituto Nacional do Cancer (INCA), Rio de Janeiro, Brazil

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Daniel Bulzico Endocrinology Service, Department of Medicine, Instituto Nacional do Cancer (INCA), Rio de Janeiro, Brazil

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Cencita Cordeiro de Noronha Pessoa Endocrinology Service, Department of Medicine, Instituto Nacional do Cancer (INCA), Rio de Janeiro, Brazil

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Rossana Corbo Endocrinology Service, Department of Medicine, Instituto Nacional do Cancer (INCA), Rio de Janeiro, Brazil
Endocrinology Service, Department of Medicine, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, Brazil

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Fernanda Vaisman Endocrinology Service, Department of Medicine, Instituto Nacional do Cancer (INCA), Rio de Janeiro, Brazil
Endocrinology Service, Department of Medicine, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, Brazil

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diagnosis (54.8 vs. 44.4 years), had larger tumors as well as more frequently metastatic disease and higher calcitonin levels. The presence of a RET mutation showed no significance in this analysis. Table 2. Factors associated with progressive

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000497201
Volume/Issue:
Volume 8: Issue 4
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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less complete thyroid surgery may fail to address fully the primary site of disease [ 69 ]. The Question of Prophylactic Thyroidectomy The specific RET mutation enables us to intervene in multiple endocrine neoplasia type 2 patients with a

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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values at OUH < 2.1 and < 3.1 pmol/L and at HUH < 1.6 and < 2.2 pmol/L in females and males, respectively. In the present study, 3.0 pmol/L was used as the cutoff value for both sexes. RET mutation analysis followed international standards, using

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000493977
Volume/Issue:
Volume 8: Issue 1
Free access