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• Research Paper Volume 12, Issue 17 pp 17288-17294

  Male patients with TERT mutation may be more likely to benefit from immunotherapy, especially for melanoma

  Relevance score: 13.502998

  Jia Li, Zhaoyan Li, Chenyue Zhang, Chenxing Zhang, Haiyong Wang

  Keywords: sex disparity, TERT mutation, immunotherapy, melanoma

  Published in Aging on September 10, 2020

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  Genomic mutation may be key factors for sex-biased disparities in cancer diagnosis, prognosis and prediction of treatment response. Current study has revealed that sex-based dimorphism on the efficacy of immune checkpoint inhibitors (ICIs) in various cancers and confirmed that male patients can benefit more from immunotherapy. However, only a subset of male patients responds well to ICIs. Therefore, biomarkers are desperately needed to identify the group of patients who may be more likely to benefit from ICIs. With the availability of the cBioPortal database, we identified that TERT mutation may serve as a sex-specific cancer biomarker and TERT mutation frequency of melanoma was higher in male patients. Notably, we found that male patients with TERT mutation may be more likely to benefit from immunotherapy (p = 0.006), especially for melanoma (p < 0.001). Therefore, our research provides a possible direction for the exploration of immunotherapy prediction biomarkers based on sex difference.

  

  The differential mutant genes between female vs male group. (A) Scatter plots, the altered frequency of genetic mutations between female vs male group (%). The X axis represents altered frequency in female. The Y axis represents altered frequency in male. The blue dots indicate that the p and q values are statistically significant. (B) The top 10 genes with the greatest difference of mutations between female vs male group. The X axis represents genetic changes with the greatest difference. The Y axis represents differential mutant genes. The red histogram indicates female and the blue histogram indicates male. (C) The frequency of TERT mutations between female vs male group in different cancer types. X-axis represents common types of cancer. The Y axis represents percent of TERT mutation. The red histogram indicates female and the blue histogram indicates male.

  
  
  

  

  The effect of TERT mutation and sex disparity on the efficacy of immunotherapy in cBioPortal database. (A) Kaplan-Meier survival analysis between female and male patients in ICI treatment cohort. The red curve represents female group, and the blue curve represents male group. (B) Kaplan-Meier survival analysis between TERT altered and unaltered group in ICI treatment cohort. The red curve represents TERT altered group, and the blue curve represents unaltered group. (C) Kaplan-Meier survival analysis between TERT altered and unaltered group in the TERT-male cohort. The red curve represents TERT altered group, and the blue curve represents unaltered group. (D) Kaplan-Meier survival analysis between TERT altered and unaltered group in the TERT-female cohort. The red curve represents TERT altered group, and the blue curve represents unaltered group.

  
  
  

  

  The effect of TERT mutation on the efficacy of immunotherapy in melanoma database. (A) Kaplan-Meier survival analysis between TERT altered and unaltered group in the male cohort. The red curve represents TERT altered group, and the blue curve represents unaltered group. (B) Kaplan-Meier survival analysis between TERT altered and unaltered group in the female cohort. The red curve represents TERT altered group, and the blue curve represents unaltered group.