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

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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.

Aim(s): Our aim was to leverage on liquid biopsy techniques to characterize mPPGLs and to follow up patients throughout treatments.

Materials and methods: A total of 236 plasma samples from 175 patients were collected. We performed shallow Whole Genome Sequencing (shWGS) in all available samples and Whole Exome Sequencing (WES) in ctDNA-positive samples.

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,