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A registry-based study of thyroid paraganglioma: histological and genetic characteristics
Ernst von Dobschuetz1, Helena Leijon1, Camilla Schalin-Jäntti1
1Section of Endocrine SurgeryDepartment of General, Visceral and Thoracic Surgery, Krankenhaus Reinbek, St. Adolf Stift, Academic Teaching Hospital University of Hamburg, Reinbek, GermanyDepartment of PathologyHelsinki University Central Hospital and University of Helsinki, Helsinki, FinlandDivision of EndocrinologyDepartment of Medicine, Helsinki University Central Hospital and University of Helsinki, Helsinki, FinlandFamilial Cancer Clinic and Onco-EndocrinologyVeneto Institute of Oncology, IRCCS, Padova, ItalyDepartment of Endocrine SurgeryUniversity of Bergen, Bergen, NorwayDepartment of HypertensionInstitute of Cardiology, Warsaw, PolandEndocrinologyDiabetes and Metabolism, University of Verona and Azienda Ospedaliera Universitaria Integrata Verona, Verona, ItalyUnits of Internal MedicineSanta Chiara General Hospital, Trento, ItalyDepartment of Internal MedicineGeneral Hospital, Montebelluna, Treviso, ItalyDepartment of Nuclear Medicine and Endocrine OncologyMaria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Gliwice, PolandDepartment of Pathology and Laboratory DiagnosticsSkłodowska-Curie Memorial Institute of Oncology, Warsaw, PolandSection for Preventive MedicineDepartment of Nephrology and General Medicine, Albert-Ludwigs-University of Freiburg, Hugstetter Straße 55, 79106 Freiburg, GermanySection for PathologyDepartment of Clinical Medicine, Centre for Cancer Biomarkers CCBIO, University of Bergen, Bergen, NorwayDepartment of Tumor PathologyM.Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Gliwice, PolandSurgical Pathology and Cytopathology UnitDepartment of Medicine, DIMED, University of Padova, Padova, ItalyDepartment of PathologySanta Chiara Regional Hospital, Trento, ItalyDepartment of PathologyMarienkrankenhaus, Hamburg, GermanyDepartment of GastroenterologyAlbert-Ludwigs-University of Freiburg, Freiburg, GermanyDepartment of EndocrinologyLa Timone Hospital, Hopitaux de Marseille
Abstract:
The precise diagnosis of thyroid neoplasias will guide surgical management. Primary thyroid paraganglioma has been rarely reported. Data on prevalence, immunohistochemistry (IHC), and molecular genetics in a systematic series of such patients are pending. We performed a multinational population-based study on thyroid paraganglioma and analyzed prevalence, IHC, and molecular genetics. Patients with thyroid paraganglioma were recruited from the European-American-Head-and-Neck-Paraganglioma-Registry. Demographic and clinical data were registered. Histopathology and IHC were re-investigated. All patients with thyroid paraganglioma underwent molecular genetic analyses of the SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, RET, TMEM127, and MAX genes. Analyses included Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) for detection of large rearrangements. Of 947 registrants, eight candidates were initially identified. After immunohistochemical analyses of these eight subjects, 5 (0.5%) were confirmed to have thyroid paraganglioma. IHC was positive for chromogranin, synaptophysin, and S-100 and negative for calcitonin in all five thyroid paragangliomas, whereas the three excluded candidate tumors stained positive for pan-cytokeratin, a marker excluding endocrine tumors. Germline variants, probably representing mutations, were found in four of the five confirmed thyroid paraganglioma cases, two each in SDHA and SDHB, whereas the excluded cases had no mutations in the tested genes. Thyroid paraganglioma is a finite entity, which must be differentiated from medullary thyroid carcinoma, because medical, surgical, and genetic management for each is different. Notably, approximately 80% of thyroid paragangliomas are associated with germline variants, with implications for additional tumors and a potential risk for the family. As opposed to sporadic tumors, surgical management and extent of resection are different for heritable tumors, each guided by the precise gene involved.
