BRAF-V600E Driven Mutations in Grade 3 Neuroendocrine Carcinomas of Colon Origin: Results from Genomic/Epigenomic Profilings and Patient-Derived Mouse Model Abstract #2180

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 ENETS conference 2018 (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Jaume Capdevila

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