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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Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
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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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Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
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Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
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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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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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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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Introduction: DICER1 is a member of RNase III family that has a pivotal role in the biogenesis of microRNAs, being important for normal development. Dysregulation of DICER1 has been described in different human tumours; however, there is insufficient data on the risk of thyroid cancer in the presence of germline DICER1 variants, particularly when focusing on the background of papillary thyroid carcinoma (PTC). For this purpose, we ascertained the presence of DICER1 variants in 502 (PTC) cases available from The Cancer Genome Atlas (TCGA) research network in a well-characterized pathological context. Material and Methods: in this study we analyzed 502 samples from 502 patients, described as PTC in the TCGA database. Tumour diagnoses were re-evaluated by 2 pathologists (S.C. and M.S.-S.) on slides available from the database, and clinicopathological and demographic data was examined. Data concerning germline and sporadic DICER1 gene variants as well as frequent mutations in the genes involved in thyroid carcinogenesis (e.g., RAS and BRAFV600E) was retrieved from the database. Results and Discussion: We report 1 new germline possibly pathogenic variant, besides 15 others already been identified in ClinVar. We found that the DICER1-positive PTC group more frequently includes PTC variants, namely the oncocytic, follicular, and aggressive (hobnail variant of PTC) variants. A previous association of DICER1 had been demonstrated, mainly with the follicular variant of PTC and follicular thyroid carcinomas. Tumours harbouring germline DICER1 mutations were more frequently “bilateral” and “encapsulated.” The frequent association of DICER1 germline variants with other mutations associated with thyroid cancer can reflect an haploinsufficiency tumour suppressor gene function of DICER1, as suggested from the study of animal models.
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serial control CT examinations. She had no prior radiotherapy nor a familial thyroid disease context. The patient reported a previous history of well-differentiated pT1b N0 M0 R0 papillary carcinoma of lower left thyroid lobe, treated by total
Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria of Modena, Modena, Italy
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Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria of Modena, Modena, Italy
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Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria of Modena, Modena, Italy
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Department of Endocrinology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
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Department of Endocrinology and Diabetes Care and Prevention Unit, IRCCS Sant’Orsola-Malpighi Polyclinic, Bologna, Italy
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Department of Endocrinology and Diabetes Care and Prevention Unit, IRCCS Sant’Orsola-Malpighi Polyclinic, Bologna, Italy
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Department of Endocrinology and Diabetes Care and Prevention Unit, IRCCS Sant’Orsola-Malpighi Polyclinic, Bologna, Italy
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Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria of Modena, Modena, Italy
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Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria of Modena, Modena, Italy
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data, history of thyroid disease, history of SAT, history of familial thyroid disease, previous and/or current anterior neck pain (localization, migrating, duration in days, evaluation on a scale from 0 to 10), previous and/or current medical treatments
