Clinical significance of ERBB2 exon 16 skipping: analysis of a real-world retrospective observational cohort study.

ESMO Open
Lei ShiJinliang Kong

Abstract

ERBB2 exon 16 skipping is an alternatively spliced isoform of ERBB2, which was reported to lead to oncogenic activation of ERBB2 and could potentially cause tyrosine kinase inhibitor (TKI) resistance in non-small cell lung cancer (NSCLC) in case studies. In this study, we aimed to evaluate the frequency of ERBB2 exon 16 skipping in a large patient cohort and its function in cancer development. A total of 38 680 Chinese patients with cancer whose tumour specimens and/or circulating cell-free DNA underwent targeted nextgeneration sequencing of cancer-related genes were retrospectively reviewed. Clinicopathological features and treatment history of patients harbouring ERBB2 exon 16 skipping were evaluated. RNA-sequencing was performed to validate the presence of exon 16 skipping in ERBB2 at the transcriptional level. ERBB2 exon 16 skipping is rare and was identified in a total of 18 patients (0.046% of total patients), including 12 lung cancers, which were caused by large fragment deletion spanning the whole or partial region of exon 16 (13/18, 72.2%) and/or splice site variants (6/18, 33.3%). The majority of these variants have not been previously reported and three of them were confirmed by RNA-sequencing. Among the 12 patients ...Continue Reading

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Methods Mentioned

BETA
Assay
RNA-Seq
PCR

Software Mentioned

SASHIMI
Integrative Genomics Viewer
Genome Analysis Toolkit ( GATK )
bcl2fastq
OncoPrint
Trimmomatic
HaplotypeCaller
VarScan2
STAR
UnifiedGenotyper

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