Abstract Library

#4650 Whole exome sequencing in pulmonary neuroendocrine neoplasms: Findings from a pilot investigation

Introduction: The molecular landscape of lung neuroendocrine tumours (NETs) is still poorly characterised. Lung NETs main prognostic factors currently include stage, histotype, grade, location, and demographic parameters, but molecular biomarkers are still not available, limiting the possibility for personalised therapeutic strategies.

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Presenting Author:

Authors: Martiradonna M, Pecora G, Mancini C, de Vitis C, Telese S,

Keywords: carcinoid, PBMC, NGS, Whole exome sequencing, WES, FFPE, Lung NET, molecular landscape,

#4591 Efficacy of Trabectedin and Olaparib in homologous repair deficient neuroendocrine neoplasms – A subgroup analysis of the TOP-ART / PMO-1603 trial

Introduction: Genomic alterations resulting in homologous recombination deficiency (HRD) occur in a variety of cancers including neuroendocrine neoplasms (NEN). HRD-positive tumours are sensitive to PARP inhibitors such as olaparib. The DNA minor groove binder trabectedin leads to DNA double strand breaks and PARP activation. The combination of Trabectedin + Olaparib (TrO) may therefore have synergistic effects in HRD-positive tumours.

Conference:

Presenting Author: Apostolidis L

Authors: Apostolidis L, Ruebsam M, Teleanu M, Wagner S, Dorman K,

Keywords: Neuroendocrine Tumour, Neuroendocrine Carcinoma, targeted therapy, chemotherapy, HRD, olaparib, trabectedin, net, nec,

#4560 Genetic trajectory and clonal evolution of non-functional pancreatic neuroendocrine tumours with lymph node and liver metastasis

Introduction: The systemic spread of panNETs is dominated by lymphatic reflux and portal system, exhibiting diverse patterns of metastasis without systematical genomic investigation.

Conference:

Presenting Author: Wu J

Authors: Wu J, Peng Y, Yin L, Jiang K, Li Q,

Keywords: Pan NET, Metastasis, Whole exome sequencing, Pylogenic tree,

#4468 Prevalence of familial pheochromocytoma and paraganglioma syndromes – A large multicentre study

Introduction: Pheochromocytoma and paraganglioma (PPGLs) are rare tumours. Depending on the studied population, approximately 30% of PPGLs are caused by a germline pathogenic variant (PV).

Conference:

Presenting Author: Halperin R

Authors: Halperin R, Reznick-Levi G, Khalaileh A, Svirsky-Frayden R, Reish O,

Keywords: paraganglioma, pheochromocytoma, genetic evaluation, catecholamine, sdhb, vhl,

#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,