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  • follicular variant of PTC x
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Abdul K Siraj Human Cancer Genomic Research, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Rong Bu Human Cancer Genomic Research, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Maham Arshad Human Cancer Genomic Research, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Kaleem Iqbal Human Cancer Genomic Research, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Sandeep Kumar Parvathareddy Human Cancer Genomic Research, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Tariq Masoodi Human Cancer Genomic Research, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Laila Omar Ghazwani Human Cancer Genomic Research, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Saif S Al-Sobhi Department of Surgery, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Fouad Al-Dayel Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Khawla S Al-Kuraya Human Cancer Genomic Research, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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was detected in a 36-year-old female who had a mixed classical and follicular PTC. The tumour was stage I with no extra-thyroidal extension. The POLE p.Thr457Met heterozygous variant was identified in an early-onset PTC patient (diagnosed at age of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0258
Volume/Issue:
Volume 9: Issue 9
Open access
Lauren E Henke Department of Radiation Oncology, Washington University School of Medicine, St. Louis, Missouri, USA

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John D Pfeifer Department of Pathology, Washington University School of Medicine, St. Louis, Missouri, USA

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Thomas J Baranski Division of Endocrinology, Diabetes, and Metabolism, Department of Internal Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA

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Todd DeWees Division of Biomedical Statistics and Informatics, Mayo Clinic, Scottsdale, Arizona, USA

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Perry W Grigsby Department of Radiation Oncology, Washington University School of Medicine, St. Louis, Missouri, USA
Division of Nuclear Medicine, Mallinckrodt Institute of Radiology, Washington University School of Medicine, Saint Louis, Missouri, USA

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pathologic markers, such as histologic subtype or somatic mutation profile, which might stratify patients at risk for these poor long-term outcomes. The majority of PTC cases comprise two histologic subtypes: classic papillary (CP) and follicular variant

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0264
Volume/Issue:
Volume 7: Issue 12
Open access
Ana P Estrada-Flórez Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA
Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Tolima, Colombia
Facultad de Ciencias para la Salud, Universidad de Caldas, Manizales, Caldas, Colombia

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Mabel E Bohórquez Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Tolima, Colombia

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Alejandro Vélez Dinamica IPS, Medellín, Antioquia, Colombia
Hospital Pablo Tobón Uribe, Medellín, Antioquia, Colombia

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Carlos S Duque Hospital Pablo Tobón Uribe, Medellín, Antioquia, Colombia

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Jorge H Donado Hospital Pablo Tobón Uribe, Medellín, Antioquia, Colombia

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Gilbert Mateus Hospital Federico Lleras Acosta, Ibagué, Tolima, Colombia

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Cesar Panqueba-Tarazona Universidad Surcolombiana, Neiva, Huila, Colombia

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Guadalupe Polanco-Echeverry Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA

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Ruta Sahasrabudhe Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA

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Magdalena Echeverry Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Tolima, Colombia

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Luis G Carvajal-Carmona Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA
Dinamica IPS, Medellín, Antioquia, Colombia
University of California Davis Comprehensive Cancer Center, Sacramento, California, USA
Fundación de Genética y Genómica, Medellín, Antioquia, Colombia

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cities. A total of 149 incident and histologically verified PTC patients, 81 with classical variant PTC (CVPTC) and 68 with follicular variant PTC (FVPTC), were recruited in between 2006 and 2016. All patients provided written informed consent, were

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0376
Volume/Issue:
Volume 8: Issue 9
Open access
Barbora Pekova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Sarka Dvorakova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Vlasta Sykorova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Gabriela Vacinova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Eliska Vaclavikova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Jitka Moravcova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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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 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 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 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 Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Bela Bendlova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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in many different types of cancer, including PTC. Several variants have been revealed in the conserved part of the IDH1 gene with an association with follicular variant of PTC ( 14 ). In the EZH1 gene a hotspot Q571R mutation was detected that

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0069
Volume/Issue:
Volume 8: Issue 6
Open access
Huy Gia Vuong Department of Pathology, University of Yamanashi, Yamanashi, Japan

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Nguyen Phuoc Long Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Viet Nam

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Nguyen Hoang Anh School of Medicine, Viet Nam National University, Ho Chi Minh City, Viet Nam

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Tran Diem Nghi School of Medicine, Viet Nam National University, Ho Chi Minh City, Viet Nam

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Mai Van Hieu School of Medicine, Viet Nam National University, Ho Chi Minh City, Viet Nam

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Le Phi Hung Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Viet Nam

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Tadao Nakazawa Department of Pathology, University of Yamanashi, Yamanashi, Japan

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Ryohei Katoh Department of Pathology, University of Yamanashi, Yamanashi, Japan

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Tetsuo Kondo Department of Pathology, University of Yamanashi, Yamanashi, Japan

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lack of data of TCVPTC and PTC-TCF, (ii) studies including different variants (e.g., follicular variant) other than classical variant in the control group, (iii) datasets considered as overlapping or duplicated, (iv) reviews, (v) case reports and (vi

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0333
Volume/Issue:
Volume 7: Issue 12
Open access
Dario de Biase Department of Pharmacy and Biotechnology (Dipartimento di Farmacia e Biotecnologie) – Molecular Diagnostic Unit, Azienda USL di Bologna, University of Bologna, Bologna, Italy

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Federica Torricelli Laboratory of Translational Research, Azienda Unità Sanitaria Locale AUSL-IRCCS, Reggio Emilia, Italy

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Moira Ragazzi Pathology Unit, Azienda Unità Sanitaria Locale AUSL-IRCCS, Reggio Emilia, Italy

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Benedetta Donati Laboratory of Translational Research, Azienda Unità Sanitaria Locale AUSL-IRCCS, Reggio Emilia, Italy

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Elisabetta Kuhn Pathology Unit, Azienda Unità Sanitaria Locale AUSL-IRCCS, Reggio Emilia, Italy

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Michela Visani Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale) – Molecular Diagnostic Unit, Azienda USL di Bologna, University of Bologna School of Medicine, Bologna, Italy

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Giorgia Acquaviva Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale) – Molecular Diagnostic Unit, Azienda USL di Bologna, University of Bologna School of Medicine, Bologna, Italy

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Annalisa Pession Department of Pharmacy and Biotechnology (Dipartimento di Farmacia e Biotecnologie) – Molecular Diagnostic Unit, Azienda USL di Bologna, University of Bologna, Bologna, Italy

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Giovanni Tallini Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale) – Molecular Diagnostic Unit, Azienda USL di Bologna, University of Bologna School of Medicine, Bologna, Italy

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Simonetta Piana Pathology Unit, Azienda Unità Sanitaria Locale AUSL-IRCCS, Reggio Emilia, Italy

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Alessia Ciarrocchi Laboratory of Translational Research, Azienda Unità Sanitaria Locale AUSL-IRCCS, Reggio Emilia, Italy

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subgroup ( Table 1 ). Lung was the most frequent metastatic site (54.1%, data not shown). Of 151 cases, 88 were diagnosed as ‘classic-PTC’ (C-PTC, 58.3%), 25 as ‘Tall-cell Variant-PTC’ (TCV-PTC, 16.6%), 17 as ‘Follicular Variant-PTC’ (FV-PTC, 11.3%), 3 as

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0386
Volume/Issue:
Volume 7: Issue 12
Open access
Guoquan Zhu Department of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, Guangzhou, China

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Yuying Deng Department of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, Guangzhou, China

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Liqin Pan Department of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, Guangzhou, China

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Wei Ouyang Department of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, Guangzhou, China

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Huijuan Feng Department of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, Guangzhou, China

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Juqing Wu Department of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, Guangzhou, China

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Pan Chen Department of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, Guangzhou, China

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Jing Wang Department of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, Guangzhou, China

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Yanying Chen Department of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, Guangzhou, China

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Jiaxin Luo Department of Nuclear Medicine, Zhujiang Hospital of Southern Medical University, Guangzhou, China

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was 38.6 ± 12.4 years (range 5–76 years); 68.0% (830) of patients were female and 32.0% (390) were male. The histologic cancer types included 1168 (95.7%) classic PTCs, 36 (3.0%) follicular variant PTCs and 16 (1.3%) other aggressive PTC variants

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0045
Volume/Issue:
Volume 8: Issue 6
Open access
Klaudia Zajkowska Endocrinology, Holycross Cancer Centre, Kielce, Poland

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Janusz Kopczyński Surgical Pathology, Holycross Cancer Centre, Kielce, Poland

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Stanisław Góźdź Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland

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Aldona Kowalska Endocrinology, Holycross Cancer Centre, Kielce, Poland
Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland

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Introduction The follicular variant of papillary thyroid carcinoma (FVPTC) is the second most common histological variant of papillary thyroid carcinoma (PTC) ( 1 ). There are two variants of FVPTC, non-encapsulated (infiltrative) and

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-19-0566
Volume/Issue:
Volume 9: Issue 3
Open access
Luis Eduardo Barbalho de Mello Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil
Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Thaise Nayane Ribeiro Carneiro Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

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Aline Neves Araujo Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

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Camila Xavier Alves Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Pedro Alexandre Favoretto Galante Centro de Oncologia Molecular, Hospital Sírio-libanês, São Paulo, São Paulo, Brazil

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Vanessa Candiotti Buzatto Centro de Oncologia Molecular, Hospital Sírio-libanês, São Paulo, São Paulo, Brazil

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Maria das Graças de Almeida Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil
Department of Clinical and Toxicological Analyses, Natal, Rio Grande do Norte, Brazil

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Karina Marques Vermeulen-Serpa Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Sancha Helena de Lima Vale Department of Clinical and Toxicological Analyses, Natal, Rio Grande do Norte, Brazil
Department of Nutrition, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Fernando José de Pinto Paiva Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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José Brandão-Neto Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Janete Maria Cerutti Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

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counselling. Here we report a family with four patients affected by PTC in three generations and evidence of genetic anticipation, suggesting a true non-syndromic FNMTC. Whole-exome sequencing (WES) was applied to identify a germline variant associated with

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-21-0406
Volume/Issue:
Volume 11: Issue 1
Open access
Ana Carolina de Jesus Paniza Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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Thais Biude Mendes Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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Matheus Duarte Borges Viana Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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Débora Mota Dias Thomaz Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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Paula B O Chiappini Department of Pathology, Hospital Heliópolis, São Paulo, Brazil

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Gabriel A Colozza-Gama Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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Susan Chow Lindsey Division of Endocrinology, Department of Medicine, Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil

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Marcos Brasilino de Carvalho Department of Head and Neck Surgery and Otorhinolaryngology, Hospital Heliópolis, São Paulo, Brazil

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Venâncio Avancini Ferreira Alves Department of Pathology, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil

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Otavio Curioni Department of Head and Neck Surgery and Otorhinolaryngology, Hospital Heliópolis, São Paulo, Brazil

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André Uchimura Bastos Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil
Department of Microbiology, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil

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Janete Maria Cerutti Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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thyroid carcinoma (PTC), the increase can also be partially ascribed to the evolution of histological criteria for the diagnosis of follicular variant of papillary thyroid carcinoma (FVPTC) ( 1 , 2 , 3 , 4 , 5 , 6 ). This variant is composed

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0459
Volume/Issue:
Volume 8: Issue 11
Open access