There is no unified treatment standard for patients with extranodal NK/T-cell lymphoma (ENKTL). Cancer neoantigens are the result of somatic mutations and cancer-specific. Increased number of somatic mutations are associated with anti-cancer effects. | Wang et al. BMC Cancer 2021 21 1303 https s12885-021-09023-9 RESEARCH Open Access The identification of gene signatures in patients with extranodal NK T-cell lymphoma from a pair of twins Yang Wang1 Huaicheng Tan1 Ting Yu2 Xuelei Ma3 4 Xiaoxuan Chen5 Fangqi Jing5 Liqun Zou6 and Huashan Shi3 4 Abstract Background There is no unified treatment standard for patients with extranodal NK T-cell lymphoma ENKTL . Cancer neoantigens are the result of somatic mutations and cancer-specific. Increased number of somatic mutations are associated with anti-cancer effects. Screening out ENKTL-specific neoantigens on the surface of cancer cells relies on the understanding of ENKTL mutation patterns. Hence it is imperative to identify ENKTL-specific genes for ENKTL diagnosis the discovery of tumor-specific neoantigens and the development of novel therapeutic strategies. We investigated the gene signatures of ENKTL patients. Methods We collected the peripheral blood of a pair of twins for sequencing to identify unique variant genes. One of the twins is diagnosed with ENKTL. Seventy samples were analyzed by Robust Multi-array Analysis RMA . Two methods elastic net and Support Vector Machine-Recursive Feature Elimination were used to select unique genes. Next we performed functional enrichment analysis and pathway enrichment analysis. Then we conducted single- sample gene set enrichment analysis of immune infiltration and validated the expression of the screened markers with limma packages. Results We screened out 126 unique variant genes. Among them 11 unique genes were selected by the combina- tion of elastic net and Support Vector Machine-Recursive Feature Elimination. Subsequently GO and KEGG analysis indicated the biological function of identified unique genes. GSEA indicated five immunity-related pathways with high signature scores. In patients with ENKTL and the group with high signature scores a proportion of functional immune cells are all of great .
