Natalia Rodon1, Marta Salido1,2, Yessica No Garbarino1, Olga Diaz1 , Marta Ferrer3, Estefania García3, Enric Carcereny3, Eugeni Saigi3 and Xavier Puig1,4,5.
1BIOPAT. Biopatologia Molecular SL. Grup Assistència. Barcelona, Spain. 2Laboratorio de Citogenética Molecular. Servicio de Patologia. Hospital del Mar. Barcelona. Spain 3Servicio de Oncologia. SCIAS-Hospital de Barcelona, Grup Assistència. Barcelona, Spain. 4HISTOPAT SL. Barcelona, Spain. 5SCIAS-Hospital de Barcelona, Grup Assistència. Barcelona, Spain.
Copy Number Variation Detection for the Indication of Targeted Therapy in a Lung Cancer Patients Series. Next-Generation Sequencing Panel vs Fluorescent in-Situ Hibridization..
Driver genes copy number variation (CNV) detection is crucial for treatment management in NSCLC. The aim of this study was to validate and compare CNVs detected by NGS panel with those obtained by a FISH assay.
This retrospective study included NSCLC patients evaluated at our institution from 2019 to 2020. All FFPE samples underwent routine ERBB2 and MET FISH amplification study and a complete morphomolecular diagnostics, CNV, fusions and gene mutations analysis using a 52 genes NGS panel. A comparison analysis based on the number of copies of each gene detected by each technique was performed..
NGS panel increases the percentage of NSCLC patients suitable for a target therapy as it screens 52 genes in one single assay.
ERBB2 and MET FISH assay performs better than the NGS panel as it is capable to detect CNV when less than ten copies of the gene or when heterogeneity of CNVs are present in tumor cells.
NGS and FISH assay have the same accuracy in the detection of CNVs of MYC, FGFR1, CCND1 and EGFR.
33rd EUROPEAN CONGRESS OF PATHOLOGY
29-31 de agosto de 2021 (on line)