Background: REarranged during Transfection (RET) gene fusion is one of the common oncogenic variants detectable in non-small cell lung cancer (NSCLC). The feature of most oncogenic RET gene fusion cases is that RET tyrosine kinase domain is retained in fusions and the partner gene includes a coiled-coil or LIS1 homology domain. However, only a few studies reported about the exceptional form of RET fusion in NSCLC so far.
Methods: Targeted next-generation sequencing (NGS) and fluorescence in situ hybridization (FISH) were performed on resected cancerous tissue.
Results: A rare form of RET fusion was identified in a 45 year-old Chinese female patient, in which exon 1-4 of LDLR fused with exon 12-21 of RET. The result was validated by FISH.
Conclusions: This novel form of RET fusion in NSCLC is reported for the first time worldwide, offering a new treatment option for the patient with the possibility of using RET-selective inhibitors.
Keywords: LDLR-RET; Partner gene; RET fusion; REarranged during transfection; Therapeutic target.
© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.