Novel TG-FGFR1 and TRIM33-NTRK1 transcript fusions in papillary thyroid carcinoma.

乳头状甲状腺癌中新型 TG-FGFR1 和 TRIM33-NTRK1 转录本融合

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作者:Pfeifer Aleksandra, Rusinek Dagmara, Å»ebracka-Gala Jadwiga, Czarniecka Agnieszka, Chmielik Ewa, Zembala-Nożyńska Ewa, Wojtaś Bartosz, Gielniewski Bartłomiej, Szpak-Ulczok Sylwia, Oczko-Wojciechowska Małgorzata, Krajewska Jolanta, Polańska Joanna, JarzÄ b Barbara
Papillary thyroid carcinoma (PTC) is most common among all thyroid cancers. Multiple genomic alterations occur in PTC, and gene rearrangements are one of them. Here we screened 14 tumors for novel fusion transcripts by RNA-Seq. Two samples harboring RET/PTC1 and RET/PTC3 rearrangements were positive controls whereas the remaining ones were negative regarding the common PTC alterations. We used Sanger sequencing to validate potential fusions. We detected 2 novel potentially oncogenic transcript fusions: TG-FGFR1 and TRIM33-NTRK1. We detected 4 novel fusion transcripts of unknown significance accompanying the TRIM33-NTRK1 fusion: ZSWIM5-TP53BP2, TAF4B-WDR1, ABI2-MTA3, and ARID1B-PSMA1. Apart from confirming the presence of RET/PTC1 and RET/PTC3 in positive control samples, we also detected known oncogenic fusion transcripts in remaining samples: TFG-NTRK1, ETV6-NTRK3, MKRN1-BRAF, EML4-ALK, and novel isoform of CCDC6-RET.

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