Targeted next generation sequencing identifies somatic mutations and gene fusions in papillary thyroid carcinoma

Oncotarget
Zheming LuBaoguo Liu

Abstract

138 papillary thyroid carcinoma (PTC) samples were assessed for somatic mutation profile and fusion genes by targeted resequencing using a cancer panel (ThyGenCapTM) targeting 244 cancer-related genes and 20 potential fusion genes. At least one genetic alteration (including mutations and fusion genes) was observed in 118/138 (85.5%) samples. The most frequently mutated gene was BRAF V600E (57.2%). Moreover, we identified 11 fusion genes including eight previously reported ones and three novel fusion genes, UEVLD-RET, OSBPL9-BRAF, and SQSTM1-NTRK3. Alterations affecting the mitogen-activated protein kinase (MAPK) signaling pathway components were seen in 69.6% of the PTC cases and all of these driver mutations were mutually exclusive. Univariate analysis ascertained that the fusion genes were strongly associated with distinct clinicopathological characteristics, such as young age, local invasion, extensive metastasis, and disease stage. In conclusion, our approach facilitated simultaneous high-throughput detection of gene fusions and somatic mutations in PTC samples.

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Citations

Mar 27, 2019·Endocrinology and Metabolism·Young Shin Song, Young Joo Park
Jun 5, 2020·Thyroid : Official Journal of the American Thyroid Association·Barbora PekovaBela Bendlova
Apr 25, 2020·Genes·Massimo SantoroFrancesca Carlomagno
Dec 29, 2017·Thyroid : Official Journal of the American Thyroid Association·Valentina D YakushinaAlexander V Lavrov
Dec 7, 2018·Thyroid : Official Journal of the American Thyroid Association·Carla ColomboLaura Fugazzola
Apr 28, 2019·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Ryma BenayedMarc Ladanyi
Jan 3, 2021·Journal of Cancer Research and Clinical Oncology·Mian LiuShi Chang
Aug 20, 2019·Cancer Genetics·Julia Isabelle StaubitzNils Hartmann
Jun 23, 2020·Seminars in Cancer Biology·Poupak FallahiAlessandro Antonelli
Nov 13, 2019·Cancer Treatment Reviews·Andrew Y LiChristian Rolfo
Aug 25, 2021·Expert Opinion on Investigational Drugs·Silvia Martina FerrariPoupak Fallahi

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Methods Mentioned

BETA
PCR
genotyping
dissection

Software Mentioned

BWA
SPSS

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