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Mutational Landscape of 109 High-Grade Gastroenteropancreatic Neuroendocrine Neoplasms G3


Introduction: Gastroenteropancreatic (GEP) neuroendocrine neoplasms (NEN) G3 are rare with a poor outcome. Molecular data for GEP NEN G3 is limited and the 2019 WHO classification is based on morphology and proliferation rate.

Aim(s): To perform molecular characterization to study the relationship to classification, treatment and prognosis.

Materials and methods: After pathological re-evaluation, we analyzed DNA from FFPE samples and matched blood from 109 GEP-NEN G3 patients; 93 neuroendocrine carcinomas (NEC) and 16 neuroendocrine tumours (NET G3) as defined by histomorphology. With a 360 cancer gene panel, we assessed the distribution of point mutations, indels and copy number alterations, and MSI status by DNA-based microsatellite length analysis.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author: Elvebakken H

Authors: Venizelos A, Elvebakken H, Perren A, Hjortland G, Sundlöv A,

Keywords: molecular genetics, neuroendocrine carcinoma, neuroendocrine tumors, gastroenteropancreatic, mutations,

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