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Luca Damiani Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy

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Sabrina Lupo Endocrine Unit, Azienda Ospedaliero-Universitaria di Ferrara, Cona/Ferrara, Italy

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Roberta Rossi Endocrine Unit, Azienda Ospedaliero-Universitaria di Ferrara, Cona/Ferrara, Italy

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Stefania Bruni Endocrine Unit, Azienda Ospedaliero-Universitaria di Ferrara, Cona/Ferrara, Italy

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Mirco Bartolomei Nuclear Medicine Unit, Azienda Ospedaliero-Universitaria di Ferrara, Ferrara, Italy

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Stefano Panareo Nuclear Medicine Unit, Azienda Ospedaliero-Universitaria di Ferrara, Ferrara, Italy

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Paola Franceschetti Endocrine Unit, Azienda Ospedaliero-Universitaria di Ferrara, Cona/Ferrara, Italy

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Paolo Carcoforo Department of Morphology, Section of Surgery, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy

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Giovanni Lanza Department of Medical Sciences, Pathology Unit, University of Ferrara, Ferrara, Italy

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Stefano Pelucchi Department of Biomedical and Surgical Specialization Sciences, University of Ferrara, Ferrara, Italy

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Ettore Degli Uberti Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy
Endocrine Unit, Azienda Ospedaliero-Universitaria di Ferrara, Cona/Ferrara, Italy

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Maria Chiara Zatelli Department of Medical Sciences, Section of Endocrinology and Internal Medicine, University of Ferrara, Ferrara, Italy
Endocrine Unit, Azienda Ospedaliero-Universitaria di Ferrara, Cona/Ferrara, Italy

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-specific survival. The retrospective nature of these studies does not allow to possibility draw definitive conclusion on the prognostic role of BRAF V600E somatic mutation. Therefore, the aim of our study was to prospectively evaluate the possible correlation

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000490699
Volume/Issue:
Volume 7: Issue 5
Free access
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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filtering steps, 16 variants were found to match the criteria described above; these are referred to as “possibly pathogenic” in our analysis. Somatic mutations of the DICER1 gene were downloaded from TCGA website and correspond with those reported in a

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000509183
Volume/Issue:
Volume 9: Issue 6
Free access
Ralf Paschke
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Silvia Cantara
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Anna Crescenzi
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Barbara Jarzab
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Thomas J. Musholt
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Manuel Sobrinho Simoes
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goiter. What Is the Evidence that Molecular FNA Diagnostics by Analyzing a Panel of Somatic Mutations Can Alter the Follow-Up? It is commonly accepted that positive rule-in tests constitute an indication for surgery due to a substantial risk

Article Type:
Guideline
DOI:
https://doi.org/10.1159/000468519
Volume/Issue:
Volume 6: Issue 3
Free access
Denise P. Carvalho Laboratório de Fisiologia Endócrina Doris Rosenthal, Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

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Corinne Dupuy Université Paris-Sud, UMR 8200 CNRS, Institute Gustave Roussy, Villejuif, France

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, indicating a relatively high level of this oxidizing agent in the thyroid gland. More recently, the observation that somatic mutations are present in higher levels in the rat thyroid gland has further confirmed that the thyrocyte is under oxidative stress [ 5

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000354745
Volume/Issue:
Volume 2: Issue 3
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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2020: pre-baseline 10,640 858 December 2020: baseline 15,979 1345 January 2022: 12 months evaluation 1617 107 Most of the RET somatic mutations occur in codon M918 within exon 16 and in codon C634 within exon 11

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
Catarina Silvestre Department of Endocrinology, Diabetes and Metabolism, Santa Maria Hospital, Lisbon, Portugal

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Joaquim Sampaio Matias Department of Laboratorial Medicine, Santa Maria Hospital, Lisbon, Portugal

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Helena Proença Department of Laboratorial Medicine, Santa Maria Hospital, Lisbon, Portugal

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Maria João Bugalho Department of Endocrinology, Diabetes and Metabolism, Santa Maria Hospital, Lisbon, Portugal

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mutations have been ascertained as the underlying mechanism of familial cases. RET somatic mutations are also found in about 45% of sporadic MTCs, indicating a poor prognosis [ 9 - 11 ]. Serum Ctn levels represent a high value tumor marker either

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000494834
Volume/Issue:
Volume 8: Issue 2
Free access
Shinsuke Shinkai Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Shizuoka, Japan

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Kenji Ohba Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Shizuoka, Japan
Medical Education Center, Hamamatsu University School of Medicine, Shizuoka, Japan

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Kennichi Kakudo Department of Pathology and Thyroid Disease Center, Izumi City General Hospital, Osaka, Japan

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Takayuki Iwaki Department of Pharmacology, Hamamatsu University School of Medicine, Shizuoka, Japan

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Yoshihiro Mimura Department of Internal Medicine, American Hospital of Paris, Neuilly sur Seine, France

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Akio Matsushita Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Shizuoka, Japan

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Go Kuroda Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Shizuoka, Japan

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Yuki Sakai Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Shizuoka, Japan

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Nobuhiko Nishino Department of Surgery, Maruyama Hospital, Shizuoka, Japan

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Kazuo Umemura Medical Education Center, Hamamatsu University School of Medicine, Shizuoka, Japan
Department of Pharmacology, Hamamatsu University School of Medicine, Shizuoka, Japan

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Takafumi Suda Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Shizuoka, Japan

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Shigekazu Sasaki Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Shizuoka, Japan

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common somatic mutation in papillary thyroid carcinoma). What Does This Case Report Add? • We identified concurrent BRAF mutation and TSHR polymorphism for the first time in a case of hyperfunctioning malignant thyroid nodule. • The findings

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000513552
Volume/Issue:
Volume 10: Issue 3
Free access
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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) CEA test performed at diagnosis 246 (89) 69 (87) MEN2 subtype for patients positive for germline or somatic mutation NA 79  MEN2A NA 22 (28)  MEN2B NA 4 (5)  Familial MTC NA 21 (27)  Unknown NA 32

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
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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. The full PTEN coding region and exon-intron boundaries were screened for somatic mutations in gDNA extracted from formalin-fixed paraffin embedded tumour samples. LOH analysis in tumour samples was performed by Sanger sequencing, according to

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000481620
Volume/Issue:
Volume 7: Issue 1
Free 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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/she is 18 years old (QOE = +; SOR = score 2). RET Oncogene Somatic Mutations in Sporadic MTC Somatic RET mutations are found in about 40% of sporadic cases of MTC mainly consisting of an M918T mutation in exon 16, which is the same

Article Type:
Guideline
DOI:
https://doi.org/10.1159/000346174
Volume/Issue:
Volume 1: Issue 4
Free access