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7. Rare Familial Tumours

Author

Cameselle-Teijeiro, José M., Eloy, Catarina, Amendoeira, Isabel, Soares, Paula, Caneiro-Gómez, Javier, Melo, Miguel, Sobrinho-Simões, Manuel, Cameselle-Teijeiro, José Manuel, editor, Eloy, Catarina, editor, and Sobrinho-Simões, Manuel, editor

Published
2018
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8. Therapeutic Options

Author

Melo, Miguel, Cameselle-Teijeiro, José M., Eloy, Catarina, Amendoeira, Isabel, Soares, Paula, Caneiro-Gómez, Javier, Sobrinho-Simões, Manuel, Cameselle-Teijeiro, José Manuel, editor, Eloy, Catarina, editor, and Sobrinho-Simões, Manuel, editor

Published
2018
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9. Other Rare Tumours and Tumour-Like Lesions

Author

Cameselle-Teijeiro, José M., Eloy, Catarina, Amendoeira, Isabel, Soares, Paula, Caneiro-Gómez, Javier, Melo, Miguel, Sobrinho-Simões, Manuel, Cameselle-Teijeiro, José Manuel, editor, Eloy, Catarina, editor, and Sobrinho-Simões, Manuel, editor

Published
2018
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10. Small Cell Tumours

Author

Eloy, Catarina, Cameselle-Teijeiro, José M., Amendoeira, Isabel, Soares, Paula, Caneiro-Gómez, Javier, Melo, Miguel, Sobrinho-Simões, Manuel, Cameselle-Teijeiro, José Manuel, editor, Eloy, Catarina, editor, and Sobrinho-Simões, Manuel, editor

Published
2018
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11. Rare Papillary Thyroid Carcinomas

Author

Cameselle-Teijeiro, José M., Eloy, Catarina, Amendoeira, Isabel, Soares, Paula, Caneiro-Gómez, Javier, Melo, Miguel, Sobrinho-Simões, Manuel, Cameselle-Teijeiro, José Manuel, editor, Eloy, Catarina, editor, and Sobrinho-Simões, Manuel, editor

Published
2018
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12. Introduction

Author

Sobrinho-Simões, Manuel, Eloy, Catarina, Amendoeira, Isabel, Soares, Paula, Caneiro-Gómez, Javier, Melo, Miguel, Cameselle-Teijeiro, José M., Cameselle-Teijeiro, José Manuel, editor, Eloy, Catarina, editor, and Sobrinho-Simões, Manuel, editor

Published
2018
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16. Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations—is the term “thyroblastoma” more appropriate?

Author

Agaimy, Abbas, Witkowski, Leora, Stoehr, Robert, Cuenca, Joseph Christopher Castillo, González-Muller, Carlos Alberto, Brütting, Alfred, Bährle, Markus, Mantsopoulos, Konstantinos, Amin, Randa M. S., Hartmann, Arndt, Metzler, Markus, Amr, Samir S., Foulkes, William D., Sobrinho-Simões, Manuel, and Eloy, Catarina

Published
2020
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18. Investigating USP42 Mutation as Underlying Cause of Familial Non-Medullary Thyroid Carcinoma.

Author

Teixeira, Elisabete, Fernandes, Cláudia, Bungărdean, Maria, Paula, Arnaud Da Cruz, Lima, Raquel T., Batista, Rui, Vinagre, João, Sobrinho-Simões, Manuel, Máximo, Valdemar, and Soares, Paula

Subjects
THYROID cancer, CYTOLOGY, GENETIC mutation, MISSENSE mutation, GENE silencing, THYROTROPIN receptors
Abstract

In a family with Familial Non-Medullary Thyroid Carcinoma (FNMTC), our investigation using Whole-Exome Sequencing (WES) uncovered a novel germline USP42 mutation [p.(Gly486Arg)]. USP42 is known for regulating p53, cell cycle arrest, and apoptosis, and for being reported as overexpressed in breast and gastric cancer patients. Recently, a USP13 missense mutation was described in FNMTC, suggesting a potential involvement in thyroid cancer. Aiming to explore the USP42 mutation as an underlying cause of FNMTC, our team validated the mutation in blood and tissue samples from the family. Using immunohistochemistry, the expression of USP42, Caspase-3, and p53 was assessed. The USP42 gene was silenced in human thyroid Nthy-Ori 3-1 cells using siRNAs. Subsequently, expression, viability, and morphological assays were conducted. p53, Cyclin D1, p21, and p27 proteins were evaluated by Western blot. USP42 protein was confirmed in all family members and was found to be overexpressed in tumor samples, along with an increased expression of p53 and cleaved Caspase-3. siRNA-mediated USP42 downregulation in Nthy-Ori 3-1 cells resulted in reduced cell viability, morphological changes, and modifications in cell cycle-related proteins. Our results suggest a pivotal role of USP42 mutation in thyroid cell biology, and this finding indicates that USP42 may serve as a new putative target in FNMTC. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Genomic profiling of primary and metastatic thyroid cancers.

Author

Máximo, Valdemar, Melo, Miguel, Yingjie Zhu, Gazzo, Andrea, Sobrinho Simões, Manuel, Da Cruz Paula, Arnaud, and Soares, Paula

Subjects
THYROID cancer, ANAPLASTIC thyroid cancer, LYMPHATIC metastasis, MEDULLARY thyroid carcinoma, BRAF genes, METASTASIS, SOMATIC mutation
Abstract

The genetic repertoire of primary thyroid cancers (TCs) is well documented, but there is a considerable lack of molecular profiling in metastatic TCs. Here, we retrieved and analyzed the molecular and clinical features of 475 primary and metastatic TCs subjected to targeted DNA sequencing, from the cBioPortal database. The cohort included primary and metastatic samples from 276 papillary thyroid carcinomas (PTCs), 5 follicular thyroid carcinomas, 22 Hürthle cell carcinomas (HCCs), 127 poorly differentiated thyroid carcinomas (PDTCs), 30 anaplastic thyroid carcinomas (ATCs) and 15 medullary thyroid carcinomas. The ATCs had the highest tumor mutational burden and the HCCs the highest fraction of the genome altered. Compared to primary PTCs, the metastases had a significantly higher frequency of genetic alterations affecting TERT (51% vs 77%, P < 0.001), CDKN2A (2% vs 10%, P < 0.01), RET (2% vs 7%, P < 0.05), CDKN2B (1% vs 6%, P < 0.05) and BCOR (0% vs 4%, P < 0.05). The distant metastases had a significantly lower frequency of BRAF (64% vs 85%, P < 0.01) and a significantly higher frequency of NRAS (13% vs 3%, P < 0.05) hotspot mutations than the lymph node metastases. Metastases from HCCs and PDTCs were found to be enriched for NF1 (29%) and TP53 (18%) biallelic alterations, respectively. The frequency of subclonal mutations in ATCs was significantly higher than in PTCs (43% vs 25%, P < 0.01) and PDTCs (43% vs 22%, P < 0.01). Metastatic TCs are enriched in clinically informative genetic alterations such as RET translocations, BRAF hotspot mutations and NF1 biallelic losses that may be explored therapeutically. [ABSTRACT FROM AUTHOR]

Published
2024
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21. P421: TARGETED DISRUPTION OF HUMAN FLT3 ERADICATES LEUKEMIC STEM CELLS WITHOUT HARMING HEALTHY HEMATOPOIETIC STEM CELLS

Author

Araújo, Joana, primary, Wagenblast, Elvin, additional, Voisin, Veronique, additional, Mcleod, Jessica, additional, Gan, Olga, additional, Jin, Liqing, additional, Mitchell, Amanda, additional, Gratton, Blaise, additional, Cutting, Sarah, additional, Arruda, Andrea, additional, Doedens, Monica, additional, Capo-Chichi, Jose-Mario, additional, Minden, Mark, additional, Sobrinho-Simões, Manuel, additional, Pinto-Do-Ó, Perpétua, additional, Lechman, Eric, additional, and Dick, John, additional

Published
2023
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23. Is Low-Dose Radiation Exposure a Risk Factor for Atherosclerotic Disease?

Author

Boaventura, Paula, Durães, Cecília, Mendes, Adélia, Costa, Natália Rios, Chora, Inês, Ferreira, Sara, Araújo, Emanuel, Lopes, Pedro, Rosa, Gilberto, Marques, Pedro, Tavares, Sofia, Chaves, Vanessa, Bettencourt, Paulo, Oliveira, Inês, Costa, Francisco, Ramos, Isabel, Teles, Maria José, Guimarães, João Tiago, Sobrinho-Simões, Manuel, and Soares, Paula

Published
2018

25. Thyroid and Parathyroid Glands

Author

Eloy, Catarina, Soares, Paula, Máximo, Valdemar, Sobrinho-Simões, Manuel, Cardesa, Antonio, editor, Slootweg, Pieter J., editor, Gale, Nina, editor, and Franchi, Alessandro, editor

Published
2016
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28. TERTp mutation is associated with a shorter progression free survival in patients with aggressive histology subtypes of follicular-cell derived thyroid carcinoma

Author

Penna, Gustavo C., Pestana, Ana, Cameselle, José Manuel, Momesso, Denise, de Andrade, Fernanda Accioly, Vidal, Ana Paula Aguiar, Araujo Junior, Mario Lucio, Melo, Miguel, Fernandes, Priscila Valverde, Corbo, Rossana, Vaisman, Mario, Sobrinho-Simões, Manuel, Soares, Paula, and Vaisman, Fernanda

Published
2018
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30. Spotlight on hTERT Complex Regulation in Cutaneous T-Cell Lymphomas

Author

Ropio, Joana, primary, Prochazkova-Carlotti, Martina, additional, Batista, Rui, additional, Pestana, Ana, additional, Chebly, Alain, additional, Ferrer, Jacky, additional, Idrissi, Yamina, additional, Cappellen, David, additional, Durães, Cecília, additional, Boaventura, Paula, additional, Vinagre, João, additional, Azzi-Martin, Lamia, additional, Poglio, Sandrine, additional, Cabeçadas, José, additional, Campos, Manuel António, additional, Beylot-Barry, Marie, additional, Sobrinho-Simões, Manuel, additional, Merlio, Jean-Philippe, additional, Soares, Paula, additional, and Chevret, Edith, additional

Published
2023
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31. Genomic profiling of lymph node and distant metastases from papillary and poorly differentiated thyroid carcinomas

Author

Máximo, Valdemar, Melo, Miguel, Sobrinho-Simões, Manuel, Soares, Paula, and Da Cruz Paula, Arnaud

Abstract

Purpose: To perform a molecular profiling of the metastases from papillary thyroid carcinomas (PTCs) and poorly differentiated thyroid carcinomas (PDTCs). Methods: We retrieved and analyzed the molecular and clinical features of 136 metastases from PTCs and 35 metastases from PDTCs subjected to targeted DNA sequencing, from cBioPortal. The clinicopathological data included the number and location of the metastases, and genomic data included mutations, translocations, copy number alterations and fraction of the genome altered (FGA). Results: Bone metastases from PTCs had a lower frequency of BRAFmutations than the lymph node metastases (LNMs) (43% vs 88%, p&lt; 0.01), and a higher frequency of RBM10and NRASmutations than the LNMs (21% vs 3% for both, p&lt; 0.05). The FGA of the bone metastases was higher than the FGA of the lung metastases (5.6% vs 1.3%, p&lt; 0.05). The frequency of RETtranslocations was higher in the lung metastases from PTCs than the LNMs (15% vs 3%, p&lt; 0.05). The LNMs from PTC patients harboring 4 or more distant metastases (DMs) had a higher frequency of TERTpromoter mutations than the LNMs from patients harboring less than 4 DMs (96% vs 65%, p&lt; 0.001). SDHAgene amplifications were enriched in the bone metastases from PDTCs and absent in the LNMs (38% vs 0%, p&lt; 0.05). Conclusion: Metastases from PTCs and PDTCs harbor clinically relevant alterations affecting distinct body locations, such as NRASand RBM10mutations, RETtranslocations and SDHAamplifications that may be explored therapeutically.

Published
2024
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33. 2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma

Author

Lebbink, Chantal A, primary, Links, Thera P, additional, Czarniecka, Agnieszka, additional, Dias, Renuka P, additional, Elisei, Rossella, additional, Izatt, Louise, additional, Krude, Heiko, additional, Lorenz, Kerstin, additional, Luster, Markus, additional, Newbold, Kate, additional, Piccardo, Arnoldo, additional, Sobrinho-Simões, Manuel, additional, Takano, Toru, additional, Paul van Trotsenburg, A S, additional, Verburg, Frederik A, additional, and van Santen, Hanneke M, additional

Published
2022
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34. Characterisation of an Atrx Conditional Knockout Mouse Model: Atrx Loss Causes Endocrine Dysfunction Rather Than Pancreatic Neuroendocrine Tumour

Author

Gaspar, Tiago Bordeira, primary, Macedo, Sofia, additional, Sá, Ana, additional, Soares, Mariana Alves, additional, Rodrigues, Daniela Ferreira, additional, Sousa, Mafalda, additional, Mendes, Nuno, additional, Martins, Rui Sousa, additional, Cardoso, Luís, additional, Borges, Inês, additional, Canberk, Sule, additional, Gärtner, Fátima, additional, Miranda-Alves, Leandro, additional, Sobrinho-Simões, Manuel, additional, Lopes, José Manuel, additional, Soares, Paula, additional, and Vinagre, João, additional

Published
2022
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35. Detection of SARS-CoV-2 infection in thyroid follicular cells from a COVID-19 autopsy series

Author

Macedo, Sofia, primary, Pestana, Ana, additional, Santos, Liliana, additional, Neves, Celestino, additional, Guimarães, Susana, additional, Duarte-Neto, Amaro, additional, Dolhnikoff, Marisa, additional, Saldiva, Paulo, additional, Alves, Georgina, additional, Oliveira, Rute, additional, Cabanes, Didier, additional, Carneiro, Fátima, additional, Sobrinho-Simões, Manuel, additional, and Soares, Paula, additional

Published
2022
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36. Rare Follicular Tumours

Author

Cameselle-Teijeiro, José M., primary, Eloy, Catarina, additional, Amendoeira, Isabel, additional, Soares, Paula, additional, Caneiro-Gómez, Javier, additional, Melo, Miguel, additional, and Sobrinho-Simões, Manuel, additional

Published
2017
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37. Small Cell Tumours

Author

Eloy, Catarina, primary, Cameselle-Teijeiro, José M., additional, Amendoeira, Isabel, additional, Soares, Paula, additional, Caneiro-Gómez, Javier, additional, Melo, Miguel, additional, and Sobrinho-Simões, Manuel, additional

Published
2017
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38. Other Rare Tumours and Tumour-Like Lesions

Author

Cameselle-Teijeiro, José M., primary, Eloy, Catarina, additional, Amendoeira, Isabel, additional, Soares, Paula, additional, Caneiro-Gómez, Javier, additional, Melo, Miguel, additional, and Sobrinho-Simões, Manuel, additional

Published
2017
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39. Therapeutic Options

Author

Melo, Miguel, primary, Cameselle-Teijeiro, José M., additional, Eloy, Catarina, additional, Amendoeira, Isabel, additional, Soares, Paula, additional, Caneiro-Gómez, Javier, additional, and Sobrinho-Simões, Manuel, additional

Published
2017
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40. Introduction

Author

Sobrinho-Simões, Manuel, primary, Eloy, Catarina, additional, Amendoeira, Isabel, additional, Soares, Paula, additional, Caneiro-Gómez, Javier, additional, Melo, Miguel, additional, and Cameselle-Teijeiro, José M., additional

Published
2017
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41. Rare Papillary Thyroid Carcinomas

Author

Cameselle-Teijeiro, José M., primary, Eloy, Catarina, additional, Amendoeira, Isabel, additional, Soares, Paula, additional, Caneiro-Gómez, Javier, additional, Melo, Miguel, additional, and Sobrinho-Simões, Manuel, additional

Published
2017
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43. 2022 European Thyroid Association Guidelines for the Management of Pediatric Thyroid Nodules and Differentiated Thyroid Carcinoma

Author

Verburg, Frederik Anton, Lebbink, Chantal A., Links, Thera P., Czarniecka, Agnieszka, Dias, Renuka P., Elisei, Rossella, Izatt, Louise, Krude, Heiko, Lorenz, Kerstin, Luster, Markus, Newbold, Kate, Piccardo, Arnoldo, Sobrinho-Simões, Manuel, Takano, Toru, van Trotsenburg, Paul A.S., van Santen, Hanneke M., Verburg, Frederik Anton, Lebbink, Chantal A., Links, Thera P., Czarniecka, Agnieszka, Dias, Renuka P., Elisei, Rossella, Izatt, Louise, Krude, Heiko, Lorenz, Kerstin, Luster, Markus, Newbold, Kate, Piccardo, Arnoldo, Sobrinho-Simões, Manuel, Takano, Toru, van Trotsenburg, Paul A.S., and van Santen, Hanneke M.

Abstract

At present, no European recommendations for the management of pediatric thyroid nodules and differentiated thyroid carcinoma (DTC) exist. Differences in clinical, molecular, and pathological characteristics between pediatric and adult DTC emphasize the need for specific recommendations for the pediatric population. An expert panel was instituted by the executive committee of the European Thyroid Association including an international community of experts from a variety of disciplines including pediatric and adult endocrinology, pathology, endocrine surgery, nuclear medicine, clinical genetics, and oncology. The 2015 American Thyroid Association Pediatric Guideline was used as framework for the present guideline. Areas of discordance were identified, and clinical questions were formulated. The expert panel members discussed the evidence and formulated recommendations based on the latest evidence and expert opinion. Children with a thyroid nodule or DTC require expert care in an experienced center. The present guideline provides guidance for healthcare professionals to make well-considered decisions together with patients and parents regarding diagnosis, treatment, and follow-up of pediatric thyroid nodules and DTC.

Published
2022

44. STAT3 negatively regulates thyroid tumorigenesis

Author

Couto, Joana Pinto, Daly, Laura, Almeida, Ana, Knauf, Jeffrey A., Fagin, James A., Sobrinho-Simões, Manuel, Lima, Jorge, Máximo, Valdemar, Soares, Paula, Lyden, David, and Bromberg, Jacqueline F.

Published
2012

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