Targeted RNAseq of Formalin-Fixed Paraffin-Embedded Tissue to Differentiate Among Benign and Malignant Adrenal Cortical Tumors
Horm Metab Res 2020; 52: 607-613 DOI: 10.1055/a-1212-8803Lack of routine fresh or frozen tissue is a barrier to widespread transcriptomic
analysis of adrenal cortical tumors and an impediment to translational research
in endocrinology and endocrine oncology. Our group has previously pioneered the
use of targeted amplicon-based next-generation sequencing for archival
formalin-fixed paraffin-embedded (FFPE) adrenal tissue specimens to characterize
the spectrum of somatic mutations in various forms of primary aldosteronism.
Herein, we developed and validated a novel 194-amplicon targeted next-generation
RNA sequencing (RNAseq) assay for transcriptomic analysis of adrenal tumors
using clinical-grade FFPE specimens. Targeted RNAseq-derived expression values
for 27 adrenal cortical tumors, including aldosterone-producing adenomas (APA;
n=8), cortisol-producing adenomas (CPA; n=11), and adrenal
cortical carcinomas (ACC; n=8), highlighted known
differentially-expressed genes (DEGs; i. e., CYP11B2,
IGF2, etc.) and tumor type-specific transcriptional modules
(i. e., high cell cycle/proliferation transcript expression in
ACC, etc.), and a subset of DEGs was validated orthogonally using quantitative
reverse transcription PCR (qRT-PCR). Finally, unsupervised hierarchical
clustering using a subset of high-confidence DE...
Source: Hormone and Metabolic Research - Category: Endocrinology Authors: Plaska, Samuel W. Liu, Chia-Jen Lim, Jung Soo Rege, Juilee Bick, Nolan R. Lerario, Antonio M. Hammer, Gary D. Giordano, Thomas J. Else, Tobias Tomlins, Scott A. Rainey, William E. Udager, Aaron M. Tags: Endocrine Research Source Type: research