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Huy Gia Vuong, Nguyen Phuoc Long, Nguyen Hoang Anh, Tran Diem Nghi, Mai Van Hieu, Le Phi Hung, Tadao Nakazawa, Ryohei Katoh and Tetsuo Kondo

significantly higher as compared to classical PTC. The more recently discovered TERT promoter mutations were also more prevalent in TCVPTCs than in classical PTCs ( 9 , 29 ). The association of BRAF and TERT promoter mutations with a poor outcome in PTC

Open access

Huy Gia Vuong, Uyen N P Duong, Ahmed M A Altibi, Hanh T T Ngo, Thong Quang Pham, Hung Minh Tran, Greta Gandolfi and Lewis Hassell

described genetic marker, TERT promoter mutations, has shown promise in predicting patient’s outcomes ( 8 , 9 ). The prognostic implications of RAS mutations and RET/PTC rearrangements in PTC are still controversial. In the present study, we

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Dario de Biase, Federica Torricelli, Moira Ragazzi, Benedetta Donati, Elisabetta Kuhn, Michela Visani, Giorgia Acquaviva, Annalisa Pession, Giovanni Tallini, Simonetta Piana and Alessia Ciarrocchi

aggressive lesions from the vast majority of indolent PTCs ( 14 ). Furthermore, a recent report identifies mutations in MED12 and in TERT promoter as shared genetic features between ATC and fatal non-ATC thyroid lesions, hypothesizing a common genetic

Open access

Anello Marcello Poma, Riccardo Giannini, Paolo Piaggi, Clara Ugolini, Gabriele Materazzi, Paolo Miccoli, Paolo Vitti and Fulvio Basolo

lobectomy may be a sufficient treatment for low-risk FTC (i.e. MI-FTC with less than 4 vascular invasion foci) ( 12 ). However, molecular markers such as TERT promoter mutations were found to be an independent poor prognosis factor in differentiated

Open access

Catarina Tavares, Maria João Coelho, Catarina Eloy, Miguel Melo, Adriana Gaspar da Rocha, Ana Pestana, Rui Batista, Luciana Bueno Ferreira, Elisabete Rios, Samia Selmi-Ruby, Bruno Cavadas, Luísa Pereira, Manuel Sobrinho Simões and Paula Soares

of 96 cPTCs, demonstrating that the ones harboring BRAF V600E mutation expressed more often NIS in the cell membrane of tumor cells compared to BRAF WT cPTCs ( 28 ). Less is known about the impact of mutations in other genes (i.e. RAS and TERT p

Open access

Barbora Pekova, Sarka Dvorakova, Vlasta Sykorova, Gabriela Vacinova, Eliska Vaclavikova, Jitka Moravcova, Rami Katra, Petr Vlcek, Pavla Sykorova, Daniela Kodetova, Josef Vcelak and Bela Bendlova

only in clinical-pathological features, but also in genetic alterations. Main PTC-activating somatic mutations in the RAS , BRAF and TERT genes and RET/PTC rearrangements cause uncontrolled activation of MAPK and PI3K signaling pathways. It was

Open access

Barbora Pekova, Sarka Dvorakova, Vlasta Sykorova, Gabriela Vacinova, Eliska Vaclavikova, Jitka Moravcova, Rami Katra, Petr Vlcek, Pavla Sykorova, Daniela Kodetova, Josef Včelák and Bela Bendlova

Thyroid nodules of pediatric patients occur with rising incidence. Most of them are benign tissues, but part of them represents papillary thyroid cancer (PTC). The aim of this study was to detect mutations in commonly investigated genes as well as in novel PTC-causing genes in thyroid nodules and to correlate found mutations with clinical and pathological data. The cohort of 113 pediatric samples consisted of 30 benign lesions and 83 PTCs. DNA from samples was used for next generation sequencing to identify mutations in genes: HRAS, KRAS, NRAS, BRAF, IDH1, CHEK2, PPM1D, EIF1AX, EZH1 and for capillary sequencing in case of the TERT promoter. RNA was used for Real Time PCR to detect RET/PTC1 and RET/PTC3 rearrangements. Total detection rate of mutations was 5/30 in benign tissues and 35/83 in PTCs. Mutations in RAS genes (HRAS G13R, KRAS G12D, KRAS Q61R, NRAS Q61R) were detected in benign lesions and HRAS Q61R, NRAS Q61K mutations in PTCs. The RET/PTC rearrangement was identified in 18/83 of PTCs and was significantly associated with higher frequency of local and distant metastases. The BRAF V600E mutation was identified in 15/83 of PTCs and significantly correlated with higher age of patients and classical variant of PTC. Germline variants in the genes IDH1, CHEK2 and PPM1D were found. In conclusion, RET/PTC rearrangements and BRAF mutations were associated with the different clinical and histopathological features in pediatric PTC. RAS mutations were detected with high frequency in patients with benign nodules, thus our results suggest that these patients should be intensively followed.

Open access

Guoquan Zhu, Yuying Deng, Liqin Pan, Wei Ouyang, Huijuan Feng, Juqing Wu, Pan Chen, Jing Wang, Yanying Chen and Jiaxin Luo

metastasis. In recent years, an increasing number of molecular genetic characteristics associated with invasiveness and clinical management have been uncovered, including the BRAF V600E mutation, TERT promoter mutations, RAS mutations and RET

Open access

Tiemo S Gerber, Arno Schad, Nils Hartmann, Erik Springer, Ulrich Zechner and Thomas J Musholt

have been no RAS and BRAF p.V600E variants in the same tissue sample. Mutations in BRAF , EIF1AX , TP53 and TERT are associated with aggressive behaviour of thyroid malignancies ( 2 , 8 , 12 ). BRAF and TP53 are associated with the

Open access

Luigi Laino, Silvia Majore, Nicoletta Preziosi, Barbara Grammatico, Carmelilia De Bernardo, Salvatore Scommegna, Anna Maria Rapone, Giacinto Marrocco, Irene Bottillo and Paola Grammatico

.0 Software (Thermo Fisher Scientific; Supplementary Table 2 , see section on supplementary data given at the end of this article). The reference gene telomerase reverse transcriptase ( TERT ) was simultaneously quantified in a separate tube for each