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Updated: Sep 28, 2025
Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
A novel RET fusion in non-small cell lung cancer identified by next-generation sequencing: a case report
Xiaoyi Xu1, Haoyi Wang2, Zhaonan Yu3
1Department of Thoracic Surgery, Jinhua Hospital of Zhejiang University, Jinhua, 330700, China.
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.
Insights
A rare REarranged during Transfection (RET) gene fusion involving an intergenic breakpoint was identified in a non-small cell lung cancer patient. This discovery expands the known spectrum of RET alterations in lung cancer.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- REarranged during Transfection (RET) gene fusions are recognized oncogenic drivers in non-small cell lung cancers (NSCLCs).
- Intergenic-breakpoint fusions involving RET are infrequently reported in NSCLC, presenting diagnostic and therapeutic challenges.
Observation:
- A 40-year-old Chinese female non-smoker with stage IA lung adenocarcinoma was analyzed using targeted next-generation sequencing.
- The analysis detected a novel RET fusion characterized by an intergenic fragment upstream of the multiple inositol-polyphosphate phosphatase 1 gene fused to the RET tyrosine kinase domain.
Findings:
- This study reports the first instance of this specific intergenic RET fusion in NSCLC.
- Fluorescence in situ hybridization confirmed the novel fusion event, validating the next-generation sequencing results.
Implications:
- The identification of this new RET fusion variant broadens the understanding of genetic alterations in NSCLC.
- This finding may facilitate the development of novel targeted therapies specifically for patients with this rare RET fusion subtype.
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