Combined utility of genomic breakpoints and frame is a reliable predictor of ALK transcript function.

ABSTRACT: Lung cancer is a major cause of cancer-related deaths globally. Targeted therapies, specifically attacking cancer cells based on genetic mutations, offer promising alternatives. ALK (anaplastic lymphoma kinase) fusions result in aberrant proteins that drive cancer growth. Drugs like crizotinib and ceritinib have shown efficacy in treating ALK-positive NSCLC. Accurate detection of ALK fusions is crucial for guiding these therapies. We conducted a retrospective analysis of a Chinese cohort of 131 ALK rearrangement-positive patients detected by DNA NGS between January 2017 and December 2021. Among those 131 ALK fusions, RNA-NGS confirmed positive transcripts in 88% of canonical ALK fusions and 75% of ALK fusions with rare partners in samples sequenced by both DNA NGS and RNA NGS. The secondar

SUBMITTER: Yang Q 

PROVIDER: S-EPMC11897202 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature