Fusion Genes in Thyroid Carcinomas: Clinicopathological Characteristics and Their Impacts on Prognosis.
Barbora Pekova, Vlasta Sykorova, Karolina Mastnikova, Eliska Vaclavikova, Jitka Moravcova, Petr Vlcek, Petr Lastuvka, Milos Taudy, Rami Katra, Petr Bavor, Daniela Kodetova, Martin Chovanec, Jana Drozenova, Jaromir Astl, Petr Hrabal, Josef Vcelak, Bela Bendlova
Author Information
Barbora Pekova: Department of Molecular Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic. ORCID
Vlasta Sykorova: Department of Molecular Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic. ORCID
Karolina Mastnikova: Department of Molecular Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic.
Eliska Vaclavikova: Department of Molecular Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic.
Jitka Moravcova: Department of Molecular Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic.
Petr Vlcek: Department of Nuclear Medicine and Endocrinology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, 15006 Prague, Czech Republic.
Petr Lastuvka: Department of Otorhinolaryngology and Head and Neck Surgery, 1st Faculty of Medicine, Charles University and Motol University Hospital, 15006 Prague, Czech Republic.
Milos Taudy: Department of Otorhinolaryngology and Head and Neck Surgery, 1st Faculty of Medicine, Charles University and Motol University Hospital, 15006 Prague, Czech Republic.
Rami Katra: Department of Ear, Nose and Throat, 2nd Faculty of Medicine, Charles University and Motol University Hospital, 15006 Prague, Czech Republic. ORCID
Petr Bavor: Department of Surgery, 2nd Faculty of Medicine, Charles University and Motol University Hospital, 15006 Prague, Czech Republic.
Daniela Kodetova: Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, 15006 Prague, Czech Republic.
Martin Chovanec: Department of Otorhinolaryngology, Charles University, 3rd Faculty of Medicine, University Hospital Kralovske Vinohrady, 10034 Prague, Czech Republic. ORCID
Jana Drozenova: Department of Pathology, Charles University, 3rd Faculty of Medicine, University Hospital Kralovske Vinohrady, 10034 Prague, Czech Republic.
Jaromir Astl: Department of Otorhinolaryngology and Maxillofacial Surgery, Military University Hospital, 16902 Prague, Czech Republic. ORCID
Petr Hrabal: Department of Pathology, Military University Hospital, 16902 Prague, Czech Republic.
Josef Vcelak: Department of Molecular Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic.
Bela Bendlova: Department of Molecular Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic. ORCID
Chromosomal rearrangements of genes are oncogenic driver mutations in thyroid cancer (TC). This study aimed to identify fusion-positive thyroid tumors and to correlate them with clinical and pathological data and determine their prognostic significance. The cohort consisted of 989 different TC samples. Based on the detected mutation, samples were triaged, and those that were positive for a , , , , or mutation were excluded from further analyses. fusion gene testing was performed in 259 cases, including 126 cases using next-generation sequencing. fusion genes were detected in 57 of 846 (6.7%) papillary thyroid carcinomas and in 2 of 10 (20.0%) poorly differentiated thyroid carcinomas. A total of eight types of fusions were found, including , , , , , , and fusion-positive carcinomas were associated with the follicular growth pattern, chronic lymphocytic thyroiditis and lymph node metastases. -rearranged carcinomas showed a higher frequency of multifocality and aggressivity than -rearranged carcinomas. Tumor size, presence of metastases, positivity for the or fusion gene and a late mutation event ( or mutation) were determined as factors affecting patient prognosis. fusion genes are valuable diagnostic and prognostic markers.
