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A novel RET fusion in non-small cell lung cancer identified by next-generation sequencing: a case report

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Abstract

REarranged during Transfection (RET) gene fusion is one of the common oncogenic variants in non-small cell lung cancers (NSCLCs). However, few RET fusion-positive cases have partner intergenic-breakpoint fusions, in which the partner breakpoint localizes to intergenic regions. Here, we report a 40-year-old Chinese female non-smoker diagnosed with minimally invasive lung adenocarcinomas (pT1bN0M0, stage IA). Targeted next-generation sequencing revealed a rare form of RET fusion in the cancerous tissue, in which an intergenic fragment upstream multiple inositol-polyphosphate phosphatase 1 gene was fused with the tyrosine kinase domain in RET. The result was validated by fluorescence in situ hybridization. To our knowledge, this novel form of RET fusion in NSCLC is reported for the first time, which expands the alteration spectrum and paves the way for the future development of specific targeted therapies.

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Acknowledgements

The authors thank the patient for agreeing to use his data for research purposes, and specifically, for publication of this report. Thank Precision Diagnosis Center of Dian for providing technical help.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

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Authors and Affiliations

  1. Department of Thoracic Surgery, Jinhua Hospital of Zhejiang University, Jinhua, 330700, China

    Xiaoyi Xu & Xianguo Chen

  2. Hangzhou D.A. Medical Laboratory, Hangzhou, 310030, China

    Haoyi Wang & Zhaonan Yu

Authors
  1. Xiaoyi Xu
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  2. Haoyi Wang
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  3. Zhaonan Yu
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  4. Xianguo Chen
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Contributions

XX and HW drafted the original manuscript together, XX collected clinical data, ZU did bioinformatics analysis, XC did supervision, writing-reviewing and editing.

Corresponding authors

Correspondence to Zhaonan Yu or Xianguo Chen.

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The authors declare that they have no competing interests.

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Xu, X., Wang, H., Yu, Z. et al. A novel RET fusion in non-small cell lung cancer identified by next-generation sequencing: a case report. J Cancer Res Clin Oncol 148, 1825–1827 (2022). https://doi.org/10.1007/s00432-022-03969-4

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  • DOI: https://doi.org/10.1007/s00432-022-03969-4

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