Department of Hematology and Oncology, Winship Cancer Institute, Emory University, Atlanta, USA
Research Article
Circulating Tumor DNA Analysis Defining the Genomic Landscape of Paragangliomas and Pheochromocytomas
Author(s): Lana Khalil, Ali F. Al Sbihi, Jill Tsai, Leylah M Drusbosky, Hiba I Dada, Bassel El-Rayes and Walid Shaib*
Background: Paragangliomas (PGLs) and Pheochromocytomas (PCCs) are rare cancers. There is not standard of care treatments for these
cancers. The genomic landscape of PGLs and PCCs is not reported. The aim of this study is to report the mutational difference and assess the
feasibility of Next Generation Sequencing (NGS) testing by Circulating Tumor DNA (ctDNA) from patients with PGLs and PCCs.
Methods: Molecular alterations in 46 plasma samples were tested using Guardant360® or Guardant360® CDx ctDNA assays from multiple
institutions 2016-2021. Single nucleotide variants and indels in 54-83 genes with copy number amplifications and fusions in selected genes
were detected.
Results: A total of 46 patients (24 PGLs and 22 PCCs) were included. For the 24 PGLs patients, the median age was 55 (rang.. View More»
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