Nantong Hospital of Shanghai University, 226013, Nanting, Nantong, Jiangsu, China.
Hangzhou D.A. Medical Laboratory, 310030, Hangzhou, China.
Invest New Drugs. 2022 Aug;40(4):858-860. doi: 10.1007/s10637-022-01246-2. Epub 2022 May 7.
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.
Targeted next-generation sequencing (NGS) and fluorescence in situ hybridization (FISH) were performed on resected cancerous tissue.
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.
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.
重排转位（RET）基因融合是可在非小细胞肺癌（NSCLC）中检测到的常见致癌变异之一。大多数致癌性 RET 基因融合病例的特征是 RET 酪氨酸激酶结构域保留在融合中，而伙伴基因包含卷曲螺旋或 LIS1 同源结构域。然而，到目前为止，只有少数研究报道了 NSCLC 中异常形式的 RET 融合。
对切除的癌组织进行靶向下一代测序（NGS）和荧光原位杂交（FISH）。
在一名 45 岁的中国女性患者中鉴定出一种罕见形式的 RET 融合，其中 LDLR 的外显子 1-4 与 RET 的外显子 12-21 融合。该结果通过 FISH 得到验证。
这是首次在全球范围内报道 NSCLC 中的这种新型 RET 融合，为该患者提供了一种新的治疗选择，有可能使用 RET 选择性抑制剂。
