Diagnostic performance and prognostic value of circulating tumor DNA methylation marker in extranodal natural killer/T cell lymphoma
Xiao‐Peng Tian, Yuchen Zhang, Ningjing Lin, Liang Wang, Zhihua Li, Hanguo Guo, Shu‐Yun Ma, Mingjie An, H. J. Yang, Yuheng Hong, Xianhuo Wang, Hui Zhou, Yajun Li, Hui‐Lan Rao, Mei Li, Shaoxuan Hu, Tongyu Lin, Zhiming Li, He Huang, He Huang, Yang Liang, Zhongjun Xia, Yue Lv, Yuying Liu, Zhaohui Duan, Qingyu Chen, Jinni Wang, Jun Cai, Ying Xie, Choon Kiat Ong, Fang Liu, Yanyan Liu, Zheng Yan, Liang Huang, Rong Tao, Wenyu Li, Huiqiang Huang, Huiqiang Huang, Qingqing Cai
Abstract
Circulating tumor DNA (ctDNA) carries tumor-specific genetic and epigenetic variations. To identify extranodal natural killer/T cell lymphoma (ENKTL)-specific methylation markers and establish a diagnostic and prognosis prediction model for ENKTL, we describe the ENKTL-specific ctDNA methylation patterns by analyzing the methylation profiles of ENKTL plasma samples. We construct a diagnostic prediction model based on ctDNA methylation markers with both high specificity and sensitivity and close relevance to tumor staging and therapeutic response. Subsequently, we built a prognostic prediction model showing excellent performance, and its predictive accuracy is significantly better than the Ann Arbor staging and prognostic index of natural killer lymphoma (PINK) risk system. Notably, we further establish a PINK-C risk grading system to select individualized treatment for patients with different prognostic risks. In conclusion, these results suggest that ctDNA methylation markers are of great value in diagnosis, monitoring, and prognosis, which might have implications for clinical decision-making of patients with ENKTL.