ECE2023 New Scientific Approaches Circulating DNA to identify targetable mutation in metastatic endocrine cancers (1 abstracts)
1Gastrointestinal and Endocrine Tumors Group, Vall dHebron Institute of Oncology (VHIO), Vall dHebron Barcelona Hospital Campus, Barcelona, Spain; 2Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Institute of Health Carlos III (ISCIII), Madrid, Spain
Pheochromocytomas or Paragangliomas (PPGLs) are catecholamine-producing tumors with a 15% to 20% risk of developing metastasis, which is related to poor prognosis and shorter survival. Despite PPGL metastasis can present an indolent course for years, it eventually progresses leading to the death of the patient. As is usually the case for rare tumors, drug development for PPGL has been very slow and there are currently no effective therapies for progressive PPGL metastasis. We here applied a circulating tumor DNA (ctDNA)-based approach to a) assess the prognostic value of the levels of ctDNA analyses, b) to characterize the genomic landscape of metastatic PPGLs, and c) to identify potential therapeutic targets that can guide personalized treatments to the patients. We will present the results of our ctDNA-based analysis in a large cohort of metastatic PPGLs from an international consortium composed of groups from the ENSAT and A5 Networks, and other groups.