Pan-cancer analysis identifies SPEN mutation as a predictive biomarker with the efficacy of immunotherapy

作者全名："Li, Ya-Dong; Huang, Hao; Ren, Zheng-Ju; Yuan, Ye; Wu, Hao; Liu, Chuan"

作者地址："[Li, Ya-Dong; Huang, Hao; Ren, Zheng-Ju; Yuan, Ye; Wu, Hao; Liu, Chuan] Chongqing Med Univ, Affiliated Hosp 2, Dept Urol, Chongqing, Peoples R China"

通信作者："Liu, C (通讯作者)，Chongqing Med Univ, Affiliated Hosp 2, Dept Urol, Chongqing, Peoples R China."

来源：BMC CANCER

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001054252400001

JCR分区：Q2

影响因子：3.4

年份：2023

卷号：23

期号：1

开始页：　

结束页：　

文献类型：Article

关键词：SPEN; X chromosome inactivation; Immune checkpoint inhibitor; Immunotherapy; Prognosis

摘要："The association between specific genetic mutations and immunotherapy benefits has been widely known, while such studies in pan-cancer are still limited. SPEN, mainly involved in X chromosome inactivation (XCI), plays an essential in tumorigenesis and sex differences in cancer. Thus, we firstly analyzed the potential role of SPEN in the TCGA pan-cancer cohort and clinical samples. Bioinformatics analysis and immunohistochemistry (IHC) staining confirm that the expression of SPEN is significantly different in various cancers and may involve RNA splicing and processing via enrichment analysis. Then, our data further revealed that those patients with SPEN mutation could predict a better prognosis in pan-cancer and had distinct immune signatures, higher tumor mutation burden (TMB), and microsatellite instability (MSI) in common cancer types. Finally, the cancer patients from 9 studies treated with immune checkpoint inhibitors were included to investigate the efficacy of immunotherapy. The results further showed that SPEN mutation was associated with better clinical outcomes (HR, 0.74; 95%CI, 0.59-0.93, P = 0.01), and this association remained existed in female patients (HR, 0.60; 95%CI, 0.38-0.94 P = 0.024), but not in male patients (HR, 0.82; 95%CI, 0.62-1.08 P = 0.150). Our findings demonstrated that SPEN mutation might strongly predict immunotherapy efficacy in pan-cancer."

基金机构：Not applicable.

基金资助正文：Not applicable.