Molecular characterization of the splicing machinery in pheochromocytomas and paragangliomas unveils a marked dysregulation with instructive potential

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Introduction: Pheochromocytomas and paragangliomas(PPGL) are rare neuroendocrine neoplasms. Up to 25% will develop distant metastases or aggressive behaviour, but there is a lack of accurate risk markers able to stratify patients according to their potential outcome. Genomic characterization of PPGLs has identified 3 clusters: Pseudohypoxic-profile, MAPK-pathway alteration, and Wnt-pathway dysregulation. Alternative splicing dysregulation is emerging as a novel hallmark of cancer, due to its link to oncogenesis and aggressiveness in different neoplasms, including NENs.

Aim(s): The aim of this work was to evaluate the status of the splicing machinery in PPGL.

Materials and methods: Expression of splicing-related genes was assessed in the TCGA cohort, comprised by 151 cases(29 paragangliomas,PGL and 122 pheochromocytomas,PCC).

Conference:

Presenting Author:

Authors: Moreno-Montilla M, Encinas Rey R, Martínez Montes A, García-Vioque V, Alors-Pérez E,

Keywords: pheochromocytoma, paraganglioma, metastasis, splicing dysregulation, splicing machinery,