Whole exome sequencing in pulmonary neuroendocrine neoplasms: Findings from a pilot investigation

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Introduction: The molecular landscape of lung neuroendocrine tumours (NETs) is still poorly characterised. Lung NETs main prognostic factors currently include stage, histotype, grade, location, and demographic parameters, but molecular biomarkers are still not available, limiting the possibility for personalised therapeutic strategies.

Aim(s): We conducted a pilot study to highlight possible genetic mutations and CNVs involved in lung NET carcinogenesis.

Materials and methods: Solid FFPE (Formalin-fixed paraffin-embedded) biopsy and PBMC (Peripheral blood mononuclear cells) samples derived from 6 patients with pulmonary NET were analysed through NGS analyses for whole exome sequencing (WES), in order to characterise mutations in known genes, new unknown mutations and CNVs.

Conference:

Presenting Author:

Authors: Martiradonna M, Pecora G, Mancini C, de Vitis C, Telese S,

Keywords: carcinoid, PBMC, NGS, Whole exome sequencing, WES, FFPE, Lung NET, molecular landscape,