Abstract Library

#4583 Improved assessment of gene rearrangements by targeting non-coding DNA regions in patients diagnosed with pancreatic neuroendocrine neoplasms

Introduction: Whole-genome sequencing projects documented the heterogeneity of pancreatic neuroendocrine neoplasms (PanNEN), while showing that few core pathways are consistently affected in their tumorigenesis. Comprehensive genomic profiling (CGP) of real-world cases is expected to recapitulate such heterogeneity for patient stratification and to inform precision therapy. While coding DNA is the focus of current CGP panels, the potential of targeting non-coding DNA (ncDNA) to improve structural variants detection has not been widely explored in this context.

Conference:

Presenting Author: Agnoletto C

Authors: Agnoletto C, Trevisani E, Borghesani M, Landoni L, Luchini C,

Keywords: neuroendocrine, non-coding DNAs, structural variants, clinical relevance, CGP panel,

#4545 Analysis of the mutational landscape of pancreatic neuroendocrine tumours before and after temozolomide treatment

Introduction: Temozolomide (TMZ) is an alkylating agent and standard treatment for pancreatic neuroendocrine tumours (pNET). Resistance to TMZ may be acquired through inactivation of the mismatch repair system, leading to high tumour mutation burden (hTMB).

Conference:

Presenting Author: Trevisani E

Authors: Trevisani E, Borghesani M, Reni A, Agnoletto C, Luchini C,

Keywords: neuroendocrine, next generation sequencing, temozolomide, hypermutation, tumour mutational burden,

#4189 Pit and pitfalls of tumor mutational burden assessment in well-differentiated pancreatic neuroendocrine tumors: Two case reports from University of Verona

Introduction: The hypermutated phenotype is used as a predictive parameter for immune-checkpoint inhibitors (ICI). However, the relationship between high TMB, the underlying mutational drivers and response to ICI is still unclear.

Conference:

Presenting Author: Trevisani E

Authors: Torresan I, Reni A, Trevisani E, Borghesani M, Rossi A,

Keywords: Neuroendocrine tumor, NGS, Tumor Mutational Burden, Alkylating agent, DNA Damage Repair, Liquid biopsy,

#4182 DNA damage repair genes alterations in pancreatic neuroendocrine tumor treated with Temozolomide

Introduction: Temozolomide (TMZ), a standard therapy for pancreatic neuroendocrine tumors (pNETs), is an alkylating agent causing missense mutations and triggering cell death.

Conference:

Presenting Author: Trevisani E

Authors: Trevisani E, Reni A, Torresan I, Borghesani M, Rossi A,

Keywords: DNA Damage Repair, Tumor mutational burden, Neuroendocrine, Temozolomide,

#4141 BRAF/MEK combination treatment in a patient with BRAF mutated neuroendocrine carcinoma

Introduction: Preclinical studies indicate that BRAF V600E mutation is a druggable target in neuroendocrine carcinomas (NEC). Indeed, there are a few case reports that describe clinical response from BRAF inhibitor treatment of colorectal NEC.

Conference:

Presenting Author: Zhang L

Authors: Falkman L, Zhang L, Welin S, Crona J,

Keywords: Neuroendocrine carcinoma, BRAF V600E, Dabrafenib, Trametinib,