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#3859 Molecular landscape of splicing dysregulation in pheochromocytomas and paragangliomas
Introduction: Pheochromocytomas and paragangliomas (PPGL) are commonly benign neuroendocrine tumors (NETs). However, up to 25 % of patients develop metastases or aggressive behaviour. Genomic characterization current classifies PPGL into different genetic clusters, yet there are no biomarkers which could stratify patients based on their prognosis. The dysregulation of the splicing process has emerged as a novel feature, common in most cancers, and linked to a more aggressive phenotype in several tumors, including NETs, but this process has not been examined in detail in PPGL.
Conference:
Presenting Author:
Authors: Moreno Montilla M, Blázquez-Encinas R, Martínez Montes �, García Vioque V, Alors-Pérez E,
Keywords: pheochromocytoma, paraganglioma, splicing dysregulation, splicing machinery, pladienolide B,
Introduction: Most pheochromocytomas (PCC) and paragangliomas (PGL) are benign neuroendocrine tumors that overproduce catecholamines causing hypertension, arrhythmia, and stroke; however, 10 30% may present distant metastasis. About 40% are caused by germline mutations, which may be classified in 3 different clusters. PCC/PGL diagnosis involves blood/urine tests and imaging techniques, while their treatment often requires distinct pharmacological and surgical approaches. Thus, identification of new biomarkers for early diagnosis, and progression/response would help to avoid unnecessary tests and enable personalized medicine approaches.
Conference: 18th Annual ENETS Concerence (2021)
Presenting Author: Ibáñez-Costa A
Authors: Ibáñez-Costa A, Blázquez-Encinas R, Alors-Pérez E, Fuentes-Fayos A, Rivero-Cortés E,
Keywords: pheochromocytoma, paraganglioma, somatostatin, somatostatin receptor, neuroendocrine tumor,
Introduction: Dysregulation of the mTOR and IGF pathways have been suggested to be involved in the pathogenesis of pheochromocytomas (PCC). mTOR inhibitors, such as sirolimus (S) and everolimus (E), as well as IGFI-R antagonists such as OSI-906, could be new a treatment for malignant PPC.
Conference: 11th Annual ENETSConcerence (2014)
Presenting Author: De Martino M
Authors: De Martino M, Feelders R, Dogan F, Van Koetsveld P, De Krijger R,
Keywords: IGF, mTOR, everolimus, OSI-906, pheochromocytoma, PC12, adrenal, neuroendocrine, tumor,
Introduction: The pathogenesis of pheochromocytomas (pheo) is poorly understood and malignant pheo need new treatment options. mTOR inhibitors, as sirolimus(S) and everolimus(E), are promising antineoplastic drugs.
Conference: 8th Annual ENETSConcerence (2011)
Presenting Author:
Authors: De Martino M, Feelders R, van Koetsveld P, De Krijger R, Sprij-Mooij D,
Keywords: IGF, mTOR, everolimus, sirolimus, pheochromocytomas, PC12, adrenal, neuroendocrine, tumor,