BRAF-V600E Driven Mutations in Grade 3 Neuroendocrine Carcinomas of Colon Origin: Results from Genomic/Epigenomic Profilings and Patient-Derived Mouse Model

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Introduction: NECs of colon origin are orphan and highly aggressive neoplasms with limited molecular knowledge.

Aim(s): To describe the DNA genomic and epigenomic aberrations of colon NECs, generate a patient-derived xenograft (PDX) model to perform translational experiments and translate the results to the clinical setting.

Materials and methods: DNA alterations were defined by VHIOCard (genotyping up to 700 mutations in 70 cancer-related genes). Microsatellite instability (MSI) was analyzed by immunohistochemistry (IHC) and polymerase chain reaction (PCR). Epigenetic changes were studied by DNA methylation analyses using microarray strategy (Illumina®) and compared with colon adenocarcinomas (ADK). We created a BRAFV600E mutated PDX of colon NEC that was treated with cisplatin-etoposide, cetuximab, and the BRAF inhibitor LGX818.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Capdevila J

Authors: Capdevila J, Mancuso F, Landolfi S, Martinez-Cardus A, Barriuso J,

Keywords: Neuroendocrine carcinoma, Genomics, Epigenomics, BRAFV600E, Patient-derived xenograft,