Functional screening of somatic mutant events in extranodal natural killer/T-cell lymphoma with adrenal involvement

作者：Luxin Zhang, Haifeng Gao, Shuang Ma, Xiaoming Fan, Huahang Guo, Man Sun, Shuang Wen, Tianqing Liu, Guanghai Yu, Xiao‐Ying Yuan, Xiuhua Sun, Bo Fan · 发表于：Frontiers in Immunology · 年份：2025 · DOI：10.3389/fimmu.2025.1566794 · 被引用次数：1 · 研究领域：Adrenal and Paraganglionic Tumors、Cardiac tumors and thrombi、Lymphoma Diagnosis and Treatment

Background Extranodal natural killer/T-cell lymphoma (ENKTL) involving the adrenal glands is extremely rare, and only a few cases have been reported. However, the genetic alterations, clinicopathological features and prognosis of these patients have not yet been fully elucidated. Methods Profiling of tumor mutations in ENKTL patients with adrenal involvement was conducted by whole-genome sequencing, and the predisposing genes and driver mutation gene variants were verified through Sanger sequencing. Immunohistochemical analysis of markers for the diagnosis and tumor microenvironment competent were performed to identify histopathological features. In addition, we searched the Surveillance, Epidemiology, and End Results (SEER), PubMed, Embase, and Scopus databases to perform a population-based study to compare the prognosis between adrenocortical carcinoma (ACC) patients and adrenal ENKTL patients using Kaplan–Meier survival curves and log-rank tests and analyzed the prognostic factors affecting the overall survival (OS) of adrenal ENKTL patients via univariate and multivariate Cox regression analyses. Results We screened 15892 somatic single-nucleotide variants (SNVs), 364 somatic insertions and deletions (INDELs), and four driver mutation genes, namely, TET2, STAT3, FAS, and TP53. In addition, immunohistochemical analysis revealed that tumor cells were positive for CD3, CD43, CD56, TIA1, granzyme B, CD2, CD4, and CD7. The immunohistochemistry for detecting components of the t...