MET exon 14 skipping mutation – A new potential therapeutical target for lung carcinoids? Results from a next-generation sequencing (NGS) study

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Introduction: Lung NETs, classified as typical carcinoid (TC) and atypical carcinoid (AC), share the well-differentiated morphology, but are characterized by an extreme heterogeneity in terms of biological aggressiveness and outcomes. Unfortunately, to date a unique molecular classification of these tumors is lacking, and therefore no personalized treatments are available.

Aim(s): To perform a genomic characterization to provide a wider molecular knowledge of Lung NETs.

Materials and methods: The Oncomine Focus panel (ThermoFisher) is a targeted, multi-biomarker assay that enables detection of hotspots in 52 clinically relevant genes, nucleotide variants (SNVs), indels, copy number variants (CNVs), and gene fusions from DNA and RNA in a single workflow. From FFPE samples, DNA and RNA is extracted, amplified, and templated into amplicon-based libraries. Paired-end massively parallel sequencing of 150-bp fragments is performed with Ion GeneStudio S5 Prime instrument on ThermoFisher platform.

Conference:

Presenting Author: La Salvia A

Authors: La Salvia A, Melucci E, Ciuffreda L, Resuli B, Visca P,

Keywords: lung neuroendocrine tumor, molecular profile, Oncomine Focus panel, MET exon 14 skipping mutation, therapeutic target,