Detection of short stature homeobox 2 and RAS-associated domain family 1 subtype A DNA methylation in interventional pulmonology

Abstract

One of the most important aspects of interventional pulmonology is to obtain tissue or liquid samples of the chest to diagnose a respiratory disease; however, it is still possible to obtain insufficient tissue or cytologic specimens. Indeed, methylation detection is an effective method by which to establish a diagnosis. This review focuses on the clinical application of short stature homeobox 2 and RAS-associated domain family 1 subtype A DNA methylation detection in interventional pulmonology, including bronchoscopic fluid biopsy, transbronchial needle aspiration, and pleural effusion.

Keywords: DNA methylation; Interventional pulmonology; Short stature homeobox 2; RAS-associated domain family 1 subtype A; Fluid biopsy; Transbronchial needle aspiration

Core Tip: Lung cancer is the most common cancer in the world. Although the diagnosis and treatment are improved, there are still a large number of cases found with advanced stage when diagnosed. DNA methylation is key to regulate gene expression and maintain cell characteristics. Studies have showed that short stature homeobox 2 (SHOX2) promoter methylation and RAS-associated domain family 1 subtype A (RASSF1A) DNA methylation have been identified as biomarkers for the diagnosis of lung cancer. We review the application of SHOX2 and RASSF1A in interventional pulmonology, and introduce some of our research results in this field.