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Oncotarget. 2017 Jul 11;8(28):45784-45792. doi: 10.18632/oncotarget.17412.

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

Author information

1
Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Laboratory of Biochemistry and Molecular Biology, Beijing, China.
2
Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Head and Neck Surgery, Peking University Cancer Hospital & Institute, Beijing, China.
3
Key Laboratory of Fertility Preservation and Maintenance (Ministry of Education), Cancer Institute of the General Hospital, Ningxia Medical University, Yinchuan, China.

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.

KEYWORDS:

cancer panel; fusion gene; papillary thyroid carcinoma (PTC); somatic mutation

PMID:
28507274
PMCID:
PMC5542227
DOI:
10.18632/oncotarget.17412
[Indexed for MEDLINE]
Free PMC Article

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