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Lamis Yehia
Lamis Yehia
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA
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Charis Eng
Charis Eng
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA
Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA
Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
Germline High Risk Cancer Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio, USA
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Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA
Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
Germline High Risk Cancer Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio, USA
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ASD. Over the last two decades, significant progress has been made in understanding the molecular and genetic mechanisms related to PTEN and associated pathway dysfunction. The existence of a known gene allows for the establishment of a molecular
Pablo Valderrabano
Pablo Valderrabano
Department of Head and Neck-Endocrine Oncology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA
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Laila Khazai
Laila Khazai
Department of Anatomic Pathology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA
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Marino E Leon
Marino E Leon
Department of Anatomic Pathology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA
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Zachary J Thompson
Zachary J Thompson
Department of Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA
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Zhenjun Ma
Zhenjun Ma
Department of Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA
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Christine H Chung
Christine H Chung
Department of Head and Neck-Endocrine Oncology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA
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Julie E Hallanger-Johnson
Julie E Hallanger-Johnson
Department of Head and Neck-Endocrine Oncology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA
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Kristen J Otto
Kristen J Otto
Department of Head and Neck-Endocrine Oncology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA
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Kara D Rogers
Kara D Rogers
Department of Head and Neck-Endocrine Oncology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA
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Barbara A Centeno
Barbara A Centeno
Department of Anatomic Pathology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA
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Bryan McIver
Bryan McIver
Department of Head and Neck-Endocrine Oncology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA
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ThyroSeq v2 claims high positive (PPV) and negative (NPV) predictive values in a wide range of pretest risks of malignancy in indeterminate thyroid nodules (ITNs) (categories B-III and B-IV of the Bethesda system). We evaluated ThyroSeq v2 performance in a cohort of patients with ITNs seen at our Academic Cancer Center from September 2014 to April 2016, in light of the new diagnostic criteria for non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). Our study included 182 patients (76% female) with 190 ITNs consecutively tested with ThyroSeq v2. Patient treatment followed our institutional thyroid nodule clinical pathway. Histologies of nodules with follicular variant papillary thyroid carcinoma or NIFTP diagnoses were reviewed, with reviewers blinded to molecular results. ThyroSeq v2 performance was calculated in nodules with histological confirmation. We identified a mutation in 24% (n = 45) of the nodules. Mutations in RAS were the most prevalent (n = 21), but the positive predictive value of this mutation was much lower (31%) than that in prior reports. In 102 resected ITNs, ThyroSeq v2 performance was as follows: sensitivity 70% (46–88), specificity 77% (66–85), PPV 42% (25–61) and NPV 91% (82–97). The performance in B-IV nodules was significantly better than that in B-III nodules (area under the curve 0.84 vs 0.57, respectively; P = 0.03), where it was uninformative. Further studies evaluating ThyroSeq v2 performance are needed, particularly in B-III.
Carla Colombo
Carla Colombo
Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
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Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
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Marina Muzza
Marina Muzza
Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano IRCCS, Milan, Italy
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Gabriele Pogliaghi
Gabriele Pogliaghi
Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano IRCCS, Milan, Italy
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Sonia Palazzo
Sonia Palazzo
Pathology Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy
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Guia Vannucchi
Guia Vannucchi
Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
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Leonardo Vicentini
Leonardo Vicentini
Endocrine Surgery Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy
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Luca Persani
Luca Persani
Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Giacomo Gazzano
Giacomo Gazzano
Pathology Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy
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Laura Fugazzola
Laura Fugazzola
Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
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Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
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Cytology is the gold standard method for the differential diagnosis of thyroid nodules, though 25–30% of them are classified as indeterminate. We aimed to set up a ‘thyroid risk score’ (TRS) to increase the diagnostic accuracy in these cases. We prospectively tested 135 indeterminate thyroid nodules. The pre-surgical TRS derived from the sum of the scores assigned at cytology, EU-TIRADS classification, nodule measurement, and molecular characterization, which was done by our PTC-MA assay, a customized array able to cost-effectively evaluate 24 different genetic alterations including point mutations and gene fusions. The risk of malignancy (ROM) increased paralleling the score: in the category >4 and ≤ 6 (low suspicion), >6 ≤ 8 (intermediate suspicion), and >8 (high suspicion); ROM was 10, 47 and 100%, respectively. ROC curves selected the score >6.5 as the best threshold to differentiate between malignant and benign nodules (P < 0.001). The TRS > 6.5 had a better performance than the single parameters evaluated separately, with an accuracy of 77 and 82% upon inclusion of noninvasive follicular thyroid neoplasm with papillary-like nuclear features among malignant or benign cases, respectively. In conclusion, for the first time, we generated a score combining a cost-effective molecular assay with already validated tools, harboring different specificities and sensitivities, for the differential diagnosis of indeterminate nodules. The combination of different parameters reduced the number of false negatives inherent to each classification system. The TRS > 6.5 was highly suggestive for malignancy and retained a high accuracy in the identification of patients to be submitted to surgery.
Sergio Vargas-Salas
Sergio Vargas-Salas
Department of Surgical Oncology, Faculty of Medicine, Pontificia Universidad Católica de Chile , Santiago, Chile
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José R Martínez
José R Martínez
Department of Surgical Oncology, Faculty of Medicine, Pontificia Universidad Católica de Chile , Santiago, Chile
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Soledad Urra
Soledad Urra
Department of Surgical Oncology, Faculty of Medicine, Pontificia Universidad Católica de Chile , Santiago, Chile
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José Miguel Domínguez
José Miguel Domínguez
Department of Endocrinology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile
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Natalia Mena
Natalia Mena
GeneproDX, Santiago, Chile
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Thomas Uslar
Thomas Uslar
Department of Internal Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile
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Marcela Lagos
Marcela Lagos
Department of Clinical Laboratories, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile
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Marcela Henríquez
Marcela Henríquez
Department of Clinical Laboratories, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile
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Hernán E González
Hernán E González
Department of Surgical Oncology, Faculty of Medicine, Pontificia Universidad Católica de Chile , Santiago, Chile
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right test’ should be considered to perform an appropriate molecular diagnosis for ITC. Therefore, a comprehensive analysis of the available evidence supporting different tests will provide clinicians with a better understanding of tests performance and
Ioana N Milos
Ioana N Milos
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Karin Frank-Raue
Karin Frank-Raue
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Nelson Wohllk
Nelson Wohllk
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Ana Luiza Maia
Ana Luiza Maia
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Eduardo Pusiol
Eduardo Pusiol
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Attila Patocs
Attila Patocs
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Mercedes Robledo
Mercedes Robledo
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Josefina Biarnes
Josefina Biarnes
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Marta Barontini
Marta Barontini
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Thera P Links
Thera P Links
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Jan Willem de Groot
Jan Willem de Groot
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Sarka Dvorakova
Sarka Dvorakova
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Mariola Peczkowska
Mariola Peczkowska
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Lisa A Rybicki
Lisa A Rybicki
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Maren Sullivan
Maren Sullivan
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Friedhelm Raue
Friedhelm Raue
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Ioana Zosin
Ioana Zosin
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Charis Eng
Charis Eng
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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Hartmut P H Neumann
Hartmut P H Neumann
Section of Preventive Medicine, Department of Endocrinology of the University of Medicine and Pharmacy ‘Victor Babes’, Private Praxis for Endocrinology, Endocrine Section, Endocrine Division, Institutos de Histología, Molecular Medicine Research Group, Hereditary Endocrine Cancer Group, Endocrinology Unit, Centro de Investigaciones Endocrinológicas, Department of Endocrinology, Department of Molecular Endocrinology of the Institute of Endocrinology, Department of Hypertension, Genomic Medicine Institute, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
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were found in the large majority of MEN 2 patients and a RET genotype–clinical phenotype found, this was the paradigm for the practice of clinical cancer genetics. Accurate molecular diagnosis and premorbid predictive testing became possible. Based on
Charis Eng
Charis Eng
Cleveland Clinic Genomic Medicine Institute, Cleveland, 44195 Ohio, USA
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discovery of the RET protooncogene as the susceptibility gene of the relatively uncommon multiple endocrine neoplasia type 2 (MEN 2) led to an explosion of gene-based molecular diagnosis, predictive testing, and genotype-specific cancer risk assessment and
Elizabeth J de Koster
Elizabeth J de Koster
Department of Medical Imaging, Nuclear Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands
Department of Radiology, Section of Nuclear Medicine, Leiden University Medical Center, Leiden, the Netherlands
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Department of Radiology, Section of Nuclear Medicine, Leiden University Medical Center, Leiden, the Netherlands
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Willem E Corver
Willem E Corver
Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands
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Lioe-Fee de Geus-Oei
Lioe-Fee de Geus-Oei
Department of Medical Imaging, Nuclear Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands
Department of Radiology, Section of Nuclear Medicine, Leiden University Medical Center, Leiden, the Netherlands
Biomedical Photonic Imaging Group, University of Twente, Enschede, the Netherlands
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Department of Radiology, Section of Nuclear Medicine, Leiden University Medical Center, Leiden, the Netherlands
Biomedical Photonic Imaging Group, University of Twente, Enschede, the Netherlands
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Wim J G Oyen
Wim J G Oyen
Department of Medical Imaging, Nuclear Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands
Department of Radiology and Nuclear Medicine, Rijnstate Hospital, Arnhem, the Netherlands
Department of Biomedical Sciences and Humanitas Clinical and Research Centre, Department of Nuclear Medicine, Humanitas University, Milan, Italy
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Department of Radiology and Nuclear Medicine, Rijnstate Hospital, Arnhem, the Netherlands
Department of Biomedical Sciences and Humanitas Clinical and Research Centre, Department of Nuclear Medicine, Humanitas University, Milan, Italy
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Dina Ruano
Dina Ruano
Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands
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Abbey Schepers
Abbey Schepers
Department of Surgery, Leiden University Medical Center, Leiden, the Netherlands
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Marieke Snel
Marieke Snel
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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Tom van Wezel
Tom van Wezel
Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands
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Dennis Vriens
Dennis Vriens
Department of Radiology, Section of Nuclear Medicine, Leiden University Medical Center, Leiden, the Netherlands
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Hans Morreau
Hans Morreau
Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands
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–LOH analysis using the GWLOH panel were interpreted as described in the flowchart in Fig. 2 , identifying the different types of CNA patterns and establishing a molecular diagnosis. First, the CNA type is identified as GH-type, reciprocal chromosomal imbalance
William D Foulkes
William D Foulkes
Departments of Human Genetics, Medicine and Oncology, McGill University, Montreal, Québec, Canada
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Jérôme Bertherat
Jérôme Bertherat
Department of Endocrinology, Cochin Hospital, Paris Descartes University, Paris, France
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Charis Eng
Charis Eng
Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA
Department of Genetics and Genome Sciences and Germline High Risk Focus Group, Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
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Department of Genetics and Genome Sciences and Germline High Risk Focus Group, Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
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multiple endocrine neoplasia type 2 (MEN 2), reviewed by Lois Mulligan ( Mulligan 2018 ), who was a co-discoverer of the first proto-oncogene cancer predisposition gene. This showed the way in molecular diagnosis, genotype–phenotype correlations and finally
Paola Caria
Paola Caria
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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Tinuccia Dettori
Tinuccia Dettori
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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Daniela V Frau
Daniela V Frau
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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Angela Borghero
Angela Borghero
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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Antonello Cappai
Antonello Cappai
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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Alessia Riola
Alessia Riola
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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Maria L Lai
Maria L Lai
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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Francesco Boi
Francesco Boi
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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Piergiorgio Calò
Piergiorgio Calò
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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Angelo Nicolosi
Angelo Nicolosi
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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Stefano Mariotti
Stefano Mariotti
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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Roberta Vanni
Roberta Vanni
Departments of Biomedical Sciences, Medical Sciences ‘M. Aresu’, Surgical Sciences, University of Cagliari, Cittadella Universitaria, 09042 Monserrato (Cagliari), Italy
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used as an adjunct to cytology. As these abnormalities rarely coexist in an individual PTC, testing for multiple alterations may improve the sensitivity of the molecular diagnosis. In this regard, a few gene classifiers are now commercially available
A Raitila
A Raitila
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M Georgitsi
M Georgitsi
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A Karhu
A Karhu
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K Tuppurainen
K Tuppurainen
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M J Mäkinen
M J Mäkinen
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K Birkenkamp-Demtröder
K Birkenkamp-Demtröder
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K Salmenkivi
K Salmenkivi
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T F Ørntoft
T F Ørntoft
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J Arola
J Arola
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V Launonen
V Launonen
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P Vahteristo
P Vahteristo
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L A Aaltonen
L A Aaltonen
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. 2007b Molecular diagnosis of pituitary adenoma predisposition, caused by aryl hydrocarbon receptor interacting protein gene mutations. PNAS 104 4101 –4105. Iwata T , Yamada S, Mizusawa N, Golam HMD, Sano T & Yoshimoto K
