Prognostic significance of actionable next-generation sequencing multigene panel in esophageal cancer treatment.

Objective: Next-generation sequencing (NGS) has been offered as a large-scale and effective genomic analyzing tool. In this research, we seek to examine the possible benefits of an actionable mutation panel in association with clinical and pathological features in the treatment of esophageal cancer.

Patients and methods: In our study, 85 cases whose diagnosis of carcinoma was confirmed histopathologically either by endoscopic biopsy or esophageal surgery between 2010 and 2020 were identified from the hospital database. In formalin-fixed, paraffin-embedded tumor samples, a total of 20 genes of AKT1, ALK, BRAF, DDR, EGFR, ERBB2, ERBB3, ESR1, FGFR1, KIT, KRAS, MAP2K1, MET, NRAS, NTRK, PDGFRA, PIK3CA, PTEN, RICTOR and ROS1 were analyzed via NGS for actionable mutations.

Results: Of 85 cases, 47 patients (55.3%) were men and 38 (44.7%) were women, and the mean age of the patients was 58.01±11.45 years. There were substantial distinctions in the variables of pathogenicity of variant, operation type, stage, and both lymphovascular and perineural invasion (p<0.05). Most of the primary tumors were situated in the lower thoracic esophagus (n=23; 27%). PIK3CA variant was the highest in number among the variant types (n=17) and was detected in 41.2% of the lower thoracic tumors. The increases in mutation numbers of >2 were especially concentrated in the lower thoracic esophageal carcinomas.

Conclusions: The utility of an actionable multigene panel revealed the value of a well-designed NGS workflow in the practical use of clinical outcomes via the prediction of responsiveness to therapeutic agents or indications for novel treatment modalities in addition to the estimation of prognosis.