Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients

作者：Mengjing Zhao, Qingjuan Li, Jing Yang, Min Zhang, Xiaolan Liu, Hongwei Zhang, Yun-peng Huang, Jing Li, Jiangping Bao, Jingfang Wang, Jun Du, Tao Guan, Liping Su · 发表于：Frontiers in Genetics · 年份：2023 · DOI：10.3389/fgene.2023.1066808 · 被引用次数：7 · 研究领域：Cancer Genomics and Diagnostics、Lymphoma Diagnosis and Treatment、Genetic factors in colorectal cancer

Background: Follicular lymphoma (FL), an indolent non-Hodgkin lymphoma (NHL), is generally incurable. Favourable prognosis and durable remission are crucial for FL patients. The genetic mutation spectrum provides novel biomarkers for determining the prognosis of FL patients, but its detection is easily affected by the collection of tumour tissue biopsies. In this study, we aimed to describe the mutational landscape of FL using circulating tumour DNA (ctDNA) samples and to explore the relationship between mutations and prognostic indicators of clinical outcome in patients with newly diagnosed follicular lymphoma and the prognostic value of such mutations. Methods: A total of 28 patients with newly diagnosed FL were included in this study. A targeted NGS-based 59-gene panel was used to assess the ctDNA mutation profiles. Differences in clinical factors between patients carrying mutations and those without mutations were analysed. We also explored the relationship between gene mutation status, mean VAFs (variant allele frequencies) and clinical factors. The Kaplan‒Meier method was applied to analyse the overall survival (OS) and progression-free survival (PFS) of patients carrying mutations and those without mutations. Results: ctDNA mutations were detectable in 21 (75%) patients. The most commonly mutated genes were CREBBP (54%, 15/28), KMT2D (50%, 14/28), STAT6 (29%, 8/28), CARD11 (18%, 5/28), PCLO (14%, 4/28), EP300 (14%, 4/28), BCL2 (11%, 3/28), and TNFAIP3 (11%, 3/28), with...