Maximizing the clinical utility and performance of cytology samples for comprehensive genetic profiling.

ABSTRACT: Comprehensive molecular profiling by next-generation sequencing has revolutionized tumor classification and biomarker evaluation. However, routine implementation is challenged by the scant nature of diagnostic material obtained through minimally invasive procedures. Here, we describe our long-term experience in profiling cytology samples with an in-depth assessment of the performance, quality metrics, biomarker identification capabilities, and potential pitfalls. We highlight the impact of several optimization strategies to maximize performance with 4,871 prospectively sequenced clinical cytology samples tested by MSK-IMPACT^TM. Special emphasis is given to the use of residual supernatant cell-free DNA (ScfDNA) as a valuable source of tumor DNA. Overall, cytology samples are simi

SUBMITTER: Kim D 

PROVIDER: S-EPMC11696557 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature