Natalia Rodon¹, Marta Salido^1,2, Yessica No Garbarino¹, Olga Diaz¹ , Marta Ferrer³, Estefania García³, Enric Carcereny³, Eugeni Saigi³ and Xavier Puig^1,4,5.

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.

Background

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..

Design

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.

Results

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..

Conclusion

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.

Texto completo

33rd EUROPEAN CONGRESS OF PATHOLOGY

29-31 de agosto de 2021 (on line)