Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Institute - Oncology Center Gliwice Branch, Gliwice, Poland.
Department of Oncological and Reconstructive Surgery, Maria Sklodowska-Curie Institute - Oncology Center Gliwice Branch, Gliwice, Poland.
Genes Chromosomes Cancer. 2019 Aug;58(8):558-566. doi: 10.1002/gcc.22737. Epub 2019 Feb 18.
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.
甲状腺乳头状癌（PTC）是所有甲状腺癌中最常见的一种。PTC 中存在多种基因组改变，基因重排就是其中之一。在这里，我们通过 RNA-Seq 筛选了 14 个肿瘤的新融合转录本。两个含有 RET/PTC1 和 RET/PTC3 重排的样本是阳性对照，而其余样本则没有常见的 PTC 改变。我们使用 Sanger 测序来验证潜在的融合。我们检测到 2 种新的潜在致癌转录本融合：TG-FGFR1 和 TRIM33-NTRK1。我们检测到与 TRIM33-NTRK1 融合相关的 4 种新的融合转录本：ZSWIM5-TP53BP2、TAF4B-WDR1、ABI2-MTA3 和 ARID1B-PSMA1。除了在阳性对照样本中确认存在 RET/PTC1 和 RET/PTC3 外，我们还在其余样本中检测到已知的致癌融合转录本：TFG-NTRK1、ETV6-NTRK3、MKRN1-BRAF、EML4-ALK 和 CCDC6-RET 的新型异构体。
