OncoTargets and Therapy (Jul 2023)
Partial Response to Crizotinib in a Lung Adenocarcinoma Patient with a Novel FBXO11 (Intergenic)-ALK (Exon 20-29) Fusion
Abstract
Jing He,1,* Youyuan Yao,1,* Fei Quan,2 Zhongyu Lu,2 Jian Wang,1 Wen Gao1 1Medical Oncology Department, Jiangsu Province Hospital, Nanjing, Jiangsu, 210029, People’s Republic of China; 2The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, Jiangsu, 210021, People’s Republic of China*These authors contributed equally to this workCorrespondence: Wen Gao; Jian Wang, Medical Oncology Department, Jiangsu Province Hospital, 300 Guangzhou Road, Nanjing, Jiangsu, 210029, People’s Republic of China, Tel +86 025 68305755, Fax +86 025 68305758, Email [email protected]; [email protected]: Intergenic-gene fusion detected by DNA-seq is particularly confusing for drug selection since the function of the intergenic region located upstream is unknown. We reported a case of a 49-year-old male with advanced lung adenocarcinoma, who was detected FBXO11 (intergenic)-ALK (exon 20-29) by DNA-seq, and FISH analysis revealed a positive result. The patient was treated with crizotinib and achieved a PR. The canonical EML4 (exon 1-13)-ALK (exon 20-29) fusion verified by RNA-seq suggested a complex EML4 (exon 1-13)-FBXO11 (intergenic)-ALK (exon 20-29) tripartite rearrangement at the DNA level. Our case emphasized the necessity of RNA-seq for verifying intergenic-gene fusion. Simultaneously, the pathogenic germline SLX4 variant and extensive CNVs of DNA segment were detected by DNA-seq deserves our attention.Keywords: intergenic fusion, lung adenocarcinoma, ALK, SLX4, chromothripsis
