Abstract: Anaplastic lymphoma kinase (ALK ) fusion is present in approximately 2– 7% of patients with lung adenocarcinoma. ALK  fusion-positive patients can benefit from targeted therapy. We herein report a 53-year-old Chinese male patient diagnosed as lung adenocarcinoma with a smoking history. Next-generation sequencing was performed to detect somatic mutations of oncogenic drivers and tumor suppressor genes in plasma-derived circulating tumor DNA using an ultra-deep 160-gene panel. A novel HPCAL1-ALK  fusion variant was identified in the patient responding to ALK  inhibitor treatments, and the fusion variant was also confirmed by fluorescence in situ hybridization and immunohistochemical. Our study expands the mutational spectrum of ALK  fusion variants and provides options for the precise treatment of such patients.
Keywords: non-small cell lung cancer, anaplastic lymphoma kinase fusion, next-generation sequencing, targeted therapy