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,

#4380 Cell-free DNA concentration correlates with copy number variant (CNV)-count, describes tumour progression and nuclear instability in GEP-NETs

Introduction: Cell-free DNA (cfDNA) levels depend on various factors related to the shedding of cells and might provide valuable information on tumour state and treatment success. In a genomic profiling pilot study conducted as part of the COMPOSE Phase III multicentre open-labelled clinical trial we assessed multiple factors and their impact on cfDNA levels in 14 GEP-NET patients.

Conference:

Presenting Author: Srirajaskanthan R

Authors: Srirajaskanthan R, Capdevila J, Smutna V, Weckwerth W, Erdoe M,

Keywords: CNV, cfDNA, liquid biopsy, quantitative marker, cfDNA concentration, longitudinal, GEP-NET, genomic profiling,

#4378 Hypoxic signalling in pancreatic NETs (pNETs)

Introduction: In a genomic profiling study conducted as part of the COMPOSE Phase III multicentre open-labelled clinical trial we assessed 9 pNET patients, 2 of which showed upregulation of CA9 and hypoxic signalling. Hypoxic tumour cells present CA9 for extracellular proton channelling, maintenance of intracellular pH and to acidify and thereby vascularise and immune-suppress the TME. In normoxia, EGLN1-3 hydroxylate proline residues of HIF1A for its subsequent ubiquitination by the VHL-complex resulting in degradation and repression of its target genes.

Conference:

Presenting Author: Walter T

Authors: Walter T, Smutna V, Srirajaskanthan R, Capdevila J, Qin Y,

Keywords: hypoxia, pNET, HIF1A, CA9, Case study, hypoxic, genomic profiling,

#4205 Precision medicine in advanced NENs: Molecular profiling and target actionability real world data

Introduction: Molecular profiling (MP) of NENs is not performed on routine basis and its potential clinical use is a matter of debate.

Conference:

Presenting Author: Farinea G

Authors: Farinea G, Anton-Pascual B, Catoya J, Modrego A, La Salvia A,

Keywords: Genomic Profiling, ESCAT, NEN, Precision Medicine,

#4174 Uncovering the genomic profiling of metastatic pheochromocytomas and paragangliomas: Leveraging plasma circulating tumor DNA for comprehensive genetic characterisation and monitoring

Introduction: Liquid biopsy, notably plasma circulating tumor DNA (ctDNA), is a non-invasive approach to elucidate the tumoral genomic profile from a blood sample. Pheochromocytomas and paragangliomas (PPGL) are often operated, characterized by quiet genomes and usually indolent tumor growth. However, challenges arise with metastatic tumors due to accessibility, catecholamine-related crises and surgery issues. Thus, molecular mechanisms transitioning from indolent to metastatic tumors are largely unexplored.

Conference:

Presenting Author:

Authors: Arenillas Lallana C, Moreno-Cárdenas A, Casteràs A, García-Álvarez A, Hernando J,

Keywords: liquid biopsy, ctDNA, metastasis, pheochromocytoma, paraganglioma, genomic targets,