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Ultrarapid EGFR Mutation Screening Followed by Comprehensive Next-Generation Sequencing: A Feasible, Informative Approach for Lung Carcinoma Cytology Specimens With a High Success Rate

Maria E. Arcila, Soo‐Ryum Yang, Amir Momeni, Douglas A. Mata, Paulo Salazar, Roger Chan, Daniela Elezovic, Ryma Benayed, Ahmet Zehir, Darren J. Buonocore, Natasha Rekhtman, Oscar Lin, Marc Ladanyi, Khédoudja Nafa

2020JTO Clinical and Research Reports40 citationsDOIOpen Access PDF

Abstract

INTRODUCTION: testing using the Idylla system followed by comprehensive next-generation sequencing (NGS). METHODS: Idylla assay were assessed; tissue suitability parameters and interpretation criteria to supplement automated mutation calling were established. The assay performance was monitored for 1 year, comparing the results with those of concurrent NGS testing by MSK-IMPACT (primarily) or MSK-AmpliSeq and MSK-Fusion solid panel in a subset of cases. RESULTS: mutations not covered by the Idylla assay, primarily insertions in exon 19 and 20 and minor mutations cooccurring with canonical sensitizing mutations. CONCLUSIONS: status without compromising subsequent NGS testing.

Topics & Concepts

ConcordanceMedicineOncologyLung cancerInternal medicineCytologyComputational biologyPathologyBiologyCancer Genomics and DiagnosticsLung Cancer Treatments and MutationsLung Cancer Research Studies