Abstract Library

#4659 Current role of systemic lanreotide therapy of patients with advanced, unresectable, non-metastatic paraganglioma / pheochromocytoma (PPGL) sporadic and hereditary

Introduction: Retrospective, performed in prospective manner single-arm, open-label, case series study to assess the efficacy of lanreotide in patients with unresectable, non-metastatic paraganglioma / pheochromocytoma (PPGL) spontaneous or germline mutations.

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Presenting Author:

Authors: Kolasińska-Ćwikla A, Pęczkowska M, Michałowska I, Pałucki J, Roszkowska-Purska K,

Keywords: Paraganglioma / pheochromocytoma (PPGL) spontaneous or germline mutations, Lanreotide therapy, fractionated metoxycatecholamines,

#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,

#4604 Germline predisposition to neuroendocrine tumours of the pancreas (pNEN) based on mutations in DNA repair genes – BRCA1, BRCA2, PALB2, CHEK2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, STK11

Introduction: Neuroendocrine tumours of the pancreas (pNEN) rank as the second most common epithelial neoplasms after pancreatic adenocarcinoma, with increasing prevalence and a mortality rate of 60%. Identifying germline mutations in DNA repair genes such as CHEK2, BRCA1/2, and MUTYH within pNEN cases may pave the way for personalised diagnostics and therapies.

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Presenting Author:

Authors: Jurecka Lubieniecka B, Ros-Mazurczyuk M, Oczko-Wojciechowska M, Cortez A, Handkiewicz-Junak D,

Keywords: pNEN, DNA repair genes,

#4594 RNA splicing as a key regulatory player with translational potential in pulmonary neuroendocrine neoplasms (lungNETs)

Introduction: Neuroendocrine tumours (NETs) are a diverse group of neoplasms arising from neuroendocrine cells. Within this group, lung neuroendocrine tumours (LungNETs) represent one of the most frequent subtypes of NETs. LungNETs are classified by grade, according to their proliferative index and aggressiveness. Among them, typical carcinoids (G1) and atypical carcinoids (G2) are the lowest grade subtypes. While these tumours are less aggressive, they remain underexplored compared to higher-grade subtypes, highlighting the need for molecular studies to improve clinical approaches. In this context, previous studies have shown that abnormalities in the splicing machinery are frequent in tumour pathologies and also occur in LungNETs.

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Presenting Author:

Authors: Gutiérrez Camacho L, Ruiz-Palacios D, García Vioque V, González-Pérez C, Moreno Montilla M,

Keywords: splicing, neuroendocrine tumour, Lung NET, typical carcinoid, atypical carcinoid,

#4588 Spatial transcriptomics identifies Wnt signalling in multifocal ileal neuroendocrine tumours

Introduction: Ileal neuroendocrine tumours (i-NETs) often present with multiple primary tumours (>30-40%). Recent studies showed no shared somatic mutations in multiple primary tumours, highlighting the need to examine the tumour microenvironment in tumorigenesis. The Wnt signalling pathway is crucial for organ stem cell regulation. While the Wnt/β-catenin pathway influences prostate and pancreatic NET/Cs, its role in i-NETs remains unclear.

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Presenting Author:

Authors: Yogo A, Akanuma N, Kim G, Thirlwell C, Mäkinen N,

Keywords: Wnt Signalling, Spatial Transcriptomics,