Joakim Crona
Joakim Crona
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Alberto Delgado Verdugo
Alberto Delgado Verdugo
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Dan Granberg
Dan Granberg
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Staffan Welin
Staffan Welin
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Peter Stålberg
Peter Stålberg
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Per Hellman
Per Hellman
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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Peyman Björklund
Peyman Björklund
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
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such guidelines, has been mainly excused by cost–benefit explanations. Introduction of novel sequencing techniques (denoted next-generation sequencing or NGS) has dramatically reduced the cost for DNA sequencing (14) . The term NGS includes principally
M I Stamou
M I Stamou
Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA
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Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA
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P Varnavas
P Varnavas
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
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L Plummer
L Plummer
Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA
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V Koika
V Koika
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
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N A Georgopoulos
N A Georgopoulos
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
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expression of the IGD phenotype in this ethnic subpopulation ( 1 ). Given that next-generation sequencing (NGS) has emerged a huge number of genes and variation in multiple diseases and disorders, we utilized whole exome sequencing (WES) to examine if
L A Hughes
L A Hughes
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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K McKay-Bounford
K McKay-Bounford
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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E A Webb
E A Webb
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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P Dasani
P Dasani
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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S Clokie
S Clokie
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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H Chandran
H Chandran
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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L McCarthy
L McCarthy
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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Z Mohamed
Z Mohamed
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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J M W Kirk
J M W Kirk
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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N P Krone
N P Krone
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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S Allen
S Allen
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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T R P Cole
T R P Cole
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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led to the use of targeted next generation sequencing (NGS) assays. These enable multiple known disease-causative genes to be sequenced in parallel alongside initial clinical assessment and biochemical investigations, potentially avoiding the need for
Xu-Feng Chen
Xu-Feng Chen
X Chen, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
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Cong He
Cong He
C He, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
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Peng-Cheng Yu
Peng-Cheng Yu
P Yu, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
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Wei-Dong Ye
Wei-Dong Ye
W Ye, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
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Peizhen Han
Peizhen Han
P Han, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
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Jia-Qian Hu
Jia-Qian Hu
J Hu, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
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Yulong Wang
Yulong Wang
Y Wang, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
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Next-generation sequencing (NGS) is of great benefit to clinical practice in terms of identifying genetic alterations. This study aims to clarify the gene background and its influence on thyroid tumor in Chinese population. NGS data and corresponding clinicopathological features (sex, age, tumor size, extrathyroidal invasion, metastasis, multifocality and TNM stage) were collected and analyzed retrospectively from 2844 individual thyroid tumor samples during July 2021 to August 2022. 2337 (82%) of the cohort possess genetic alterations including BRAF (71%), RAS (4%), RET/PTC (4%), TERT (3%), RET (2.2%) and TP53 (1.4%). Diagnostic sensitivity before surgery can be significantly increased from 0.76 to 0.91 when cytology is supplemented by NGS. Our results show that BRAF positive papillary thyroid cancer (PTC) patients tend to have elder age, smaller tumor size, less vascular invasion, more frequent tumor multifocality and significantly higher cervical lymph node metastatic rate. Mutation at RET gene codon 918 and 634 is strongly correlated with medullary thyroid cancer (MTC), However it did not display more invasive clinical characteristics. TERT positive patients are more likely to have elder age, larger tumor size, more tumor invasiveness, and more advanced TNM stage, indicating poor prognosis. Patients with TERT, RET/PTC1 and CHEK2 mutation are more susceptible to lateral lymph node metastasis. In conclusion. NGS can be a useful tool which provides practical gene evidence in the process of diagnosis and treatment in thyroid tumors.
Tiemo S Gerber
Tiemo S Gerber
Endocrine Surgery Section, Department of General, Visceral and Transplantation Surgery, University Medicine, Mainz, Germany
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Arno Schad
Arno Schad
Department of Pathology, University Medicine, Mainz, Germany
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Nils Hartmann
Nils Hartmann
Department of Pathology, University Medicine, Mainz, Germany
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Erik Springer
Erik Springer
Department of Pathology, University Medicine, Mainz, Germany
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Ulrich Zechner
Ulrich Zechner
Institute of Human Genetics, University Medicine, Mainz, Germany
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Thomas J Musholt
Thomas J Musholt
Endocrine Surgery Section, Department of General, Visceral and Transplantation Surgery, University Medicine, Mainz, Germany
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alternatives such as targeted therapies. Although Landa and coworkers ( 1 ) as well as Xu and Ghossein ( 8 ) reported an extensive investigation on PDTC, we still need to learn more about the driving molecular alterations. Using a next-generation sequencing
Luca Persani
Luca Persani
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Martine Cools
Martine Cools
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Stamatina Ioakim
Stamatina Ioakim
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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S Faisal Ahmed
S Faisal Ahmed
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
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Silvia Andonova
Silvia Andonova
National Genetic Laboratory, UHOG “Maichin dom", Medical University, Sofia, Bulgaria
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Magdalena Avbelj-Stefanija
Magdalena Avbelj-Stefanija
Department for Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
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Federico Baronio
Federico Baronio
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
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Jerome Bouligand
Jerome Bouligand
Université Paris-Saclay, Inserm UMRS1185 & Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, France
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Hennie T Bruggenwirth
Hennie T Bruggenwirth
Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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Justin H Davies
Justin H Davies
Faculty of Medicine, University of Southampton, Southampton, United Kingdom
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Elfride De Baere
Elfride De Baere
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Iveta Dzivite-Krisane
Iveta Dzivite-Krisane
Children’s University Hospital, Riga, Latvia
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Paula Fernandez-Alvarez
Paula Fernandez-Alvarez
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
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Alexander Gheldof
Alexander Gheldof
Center for Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium
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Claudia Giavoli
Claudia Giavoli
Unit of Endocrinology, Fondazione IRCCS Ospedale Maggiore Policlinico, Milano, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Claus H Gravholt
Claus H Gravholt
Departments of Endocrinology, of Clinical Medicine and of Molecular Medicine, Aarhus University, Aarhus, Denmark
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Olaf Hiort
Olaf Hiort
University Hospital Schleswig-Holstein, Campus Lübeck, and University of Lübeck, Lübeck, Germany
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Paul-Martin Holterhus
Paul-Martin Holterhus
University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany
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Anders Juul
Anders Juul
Departments of Growth and Reproduction and of Clinical Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
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Csilla Krausz
Csilla Krausz
Endocrinology and Andrology Units, University Hospital of Careggi and Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy
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Kristina Lagerstedt-Robinson
Kristina Lagerstedt-Robinson
Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden
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Ruth McGowan
Ruth McGowan
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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Uta Neumann
Uta Neumann
Charité Medicine University, Berlin, Germany
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Antonio Novelli
Antonio Novelli
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy
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Xavier Peyrassol
Xavier Peyrassol
Universitè Libre di Bruxelles, Brussels, Belgium
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Leonidas A Phylactou
Leonidas A Phylactou
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
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Julia Rohayem
Julia Rohayem
University Hospital Münster, Munster, Germany
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Philippe Touraine
Philippe Touraine
Center for Rare Endocrine and Gynecological Disorders, Department of endocrinology and reproductive Medicine, Hospital Pitié Salpêtrière, Paris, France
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Dineke Westra
Dineke Westra
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
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Valeria Vezzoli
Valeria Vezzoli
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Raffaella Rossetti
Raffaella Rossetti
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Introduction The technological advancements in genetics have had a profound impact on the diagnosis of non-communicable diseases. A next-generation sequencing (NGS) approach may lead to the identification of genetic variants with an
Lukas Plachy
Lukas Plachy
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Petra Dusatkova
Petra Dusatkova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Klara Maratova
Klara Maratova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Shenali Anne Amaratunga
Shenali Anne Amaratunga
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Dana Zemkova
Dana Zemkova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Vit Neuman
Vit Neuman
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Stanislava Kolouskova
Stanislava Kolouskova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Barbora Obermannova
Barbora Obermannova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Marta Snajderova
Marta Snajderova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Zdenek Sumnik
Zdenek Sumnik
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Jan Lebl
Jan Lebl
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Stepanka Pruhova
Stepanka Pruhova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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pituitary have been associated with CPHD to date ( 2 , 3 ). With the progress of next-generation sequencing (NGS) methods ( 3 ), the number of genes involved in pituitary development is increasing rapidly ( 4 , 5 ). Moreover, bigger genomic rearrangements
Barbora Pekova
Barbora Pekova
Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic
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Sarka Dvorakova
Sarka Dvorakova
Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic
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Vlasta Sykorova
Vlasta Sykorova
Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic
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Gabriela Vacinova
Gabriela Vacinova
Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic
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Eliska Vaclavikova
Eliska Vaclavikova
Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic
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Jitka Moravcova
Jitka Moravcova
Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic
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Rami Katra
Rami Katra
Department of Ear, Nose and Throat, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic
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Petr Vlcek
Petr Vlcek
Department of Nuclear Medicine and Endocrinology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic
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Pavla Sykorova
Pavla Sykorova
Department of Nuclear Medicine and Endocrinology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic
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Daniela Kodetova
Daniela Kodetova
Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic
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Josef Vcelak
Josef Vcelak
Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic
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Bela Bendlova
Bela Bendlova
Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic
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). Next-generation sequencing The analyzed genes were HRAS (exons 2, 3), KRAS (exons 2, 3), NRAS (exons 2, 3), BRAF (exon 15), TERT (promoter), IDH1 gene (exons 4, 6), CHEK2 (exons 3, 4, 7, 11, 13), PPM1D (exons 1, 4, 5, 6), EIF1AX
Lukas Plachy
Lukas Plachy
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Lenka Petruzelkova
Lenka Petruzelkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Petra Dusatkova
Petra Dusatkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Klara Maratova
Klara Maratova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Dana Zemkova
Dana Zemkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Lenka Elblova
Lenka Elblova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Vit Neuman
Vit Neuman
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Stanislava Kolouskova
Stanislava Kolouskova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Barbora Obermannova
Barbora Obermannova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Marta Snajderova
Marta Snajderova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Zdenek Sumnik
Zdenek Sumnik
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Jan Lebl
Jan Lebl
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Stepanka Pruhova
Stepanka Pruhova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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FSS was elucidated prior to the study (genes SHOX (6), ACAN (2), PTPN11 (2), and NF1 ). Children with no genetic cause of their short stature elucidated prior to the study were subsequently examined using next-generation sequencing (NGS) methods
Yijun Tang
Yijun Tang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yao Chen
Yao Chen
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Jiayi Wang
Jiayi Wang
Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Qianwen Zhang
Qianwen Zhang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yirou Wang
Yirou Wang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yufei Xu
Yufei Xu
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Xin Li
Xin Li
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Jian Wang
Jian Wang
International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Xiumin Wang
Xiumin Wang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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46,XY DSD patients between 2016 and 2022 and compare the efficiency of two different next-generation sequencing (NGS) methods, targeted gene panel sequencing (TPS), and whole-exome sequencing (WES). Through analysis and discussion of sequencing
