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Ebtesam Qasem Department of Molecular Oncology, Department of Pathology and Laboratory Medicine, Department of Medicine, Division of Endocrinology and Metabolism, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Avaniyapuram Kannan Murugan Department of Molecular Oncology, Department of Pathology and Laboratory Medicine, Department of Medicine, Division of Endocrinology and Metabolism, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Hindi Al-Hindi Department of Molecular Oncology, Department of Pathology and Laboratory Medicine, Department of Medicine, Division of Endocrinology and Metabolism, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Mingzhao Xing Department of Molecular Oncology, Department of Pathology and Laboratory Medicine, Department of Medicine, Division of Endocrinology and Metabolism, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Mai Almohanna Department of Molecular Oncology, Department of Pathology and Laboratory Medicine, Department of Medicine, Division of Endocrinology and Metabolism, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Meshael Alswailem Department of Molecular Oncology, Department of Pathology and Laboratory Medicine, Department of Medicine, Division of Endocrinology and Metabolism, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Ali S Alzahrani Department of Molecular Oncology, Department of Pathology and Laboratory Medicine, Department of Medicine, Division of Endocrinology and Metabolism, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Department of Molecular Oncology, Department of Pathology and Laboratory Medicine, Department of Medicine, Division of Endocrinology and Metabolism, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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Telomerase reverse transcriptase (TERT) promoter mutations C228T and C250T have recently been described in follicular cell-derived thyroid cancer (TC) in patients from North America and Europe. In this study, we explored whether these findings could be replicated in patients from a different ethnic group. We screened 17 benign thyroid adenomas and 265 TC samples from patients in the Middle East for these mutations by PCR and direct sequencing using DNA isolated from paraffin-embedded tumor tissues. None of the 17 benign adenomas harbored TERT promoter mutations. Of 265 TC, 34 (12.8%) harbored TERT promoter mutations, including 10/153 (6.5%) conventional papillary TC (CPTC), 8/57 (14.0%) follicular variant PTC, 9/30 (30%) tall cell variant PTC, 1/3 (30%) Hurthle cell thyroid cancer (HTC), 1/5 (20%) follicular TC, and 5/13 (38.5%) poorly differentiated TC. C250T mutation was present in only 6/265 (2.3%) cases, while C228T mutation was present in a total of 28/265 (10.6%) cases. These two mutations were mutually exclusive. TERT promoter mutations were significantly more common in older (≥45 years) than younger patients and were associated with larger tumour size, vascular invasion, higher TNM stage (stage III and IV), BRAF V600E mutation and persistent/recurrent disease at 6–12 months after initial treatment and at the last follow up. These associations were stronger in non-CPTC. Thus, this study on a large cohort of TC patients from Middle East demonstrates that TERT promoter mutations are relatively common, especially in the non-CPTC, and are associated with more aggressive histopathological features, BRAF V600E mutation, and disease persistence/recurrence than the WT TERT.

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Ali S Alzahrani Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Meshael Alswailem Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Alexandre Buffet Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France
Département de Médecine Génomique des Tumeurs et des Cancers, Fédération de Génétique et de Médecine Génomique, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Hôpital Européen Georges Pompidou, Paris, France

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Balgees Alghamdi Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Lulu Alobaid Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Osamah Alsagheir Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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

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Karel Pacak Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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In 2012, somatic EPAS1 pathogenic variants were found to cause a triad of pheochromocytoma/paragangliomas (PPGLs), polycythemia, and somatostatinoma. Since then, a limited number of studies on this subject have been reported, and data on the long-term outcome of metastatic disease are not available on this rare syndrome. We comprehensively reviewed EPAS1-related PPGL and describe an unusual patient who has been living with an EPAS1-related metastatic PPGL for 47 years. The results of this work show that EPAS1 pathogenic variants are rare, more in females and patients without pathogenic variants in other PPGL susceptibility genes. PPGLs are the most common manifestation followed by polycythemia and somatostatinoma. The EPAS1 pathogenic variants are often postzygotic, and the timing of their acquirement during embryonic development seems to correlate with the number and timing of development of the disease manifestations. Although recurrent and multifocal disease is common in EPAS1-related PPGL, distant metastases are uncommon and usually indolent. This is illustrated by a case of a man who was diagnosed at the age of 9 years and is currently 56 years old, alive, and well for 47 years with these metastases. He was found to have a somatic EPAS1 pathogenic variant (c.1592C>A, p.Pro531His) in bilateral pheochomocytoma and a pancreatic NET (somatostatinoma) but not in genomic DNA isolated from peripheral leukocytes. This and previous reports suggest that distant metastases are uncommon and less aggressive in EPAS1-related PPGLs compared to those found in other hereditary PPGLs.

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