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Targeted exome sequencing for the identification of common mutational signatures and potential driver mutations
for brain metastases and prognosis

  • Authors:
    • Dainan Zhang
    • Xi Wang
    • Shunchang Ma
    • Peiliang Li
    • Fei Xue
    • Beibei Mao
    • Xiudong Guan
    • Wenjianlong Zhou
    • Jiayi Peng
    • Kun Su
    • Chuanbao Zhang
    • Wang Jia

  • View Affiliations

  • Published online on: January 6, 2021     https://doi.org/10.3892/ol.2021.12440
  • Article Number: 179
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Abstract

Brain metastases (BMs) are malignancies in the central nervous system with poor prognosis. Genetic landscapes of the primary tumor sites have been extensively profiled; however, mutations associated with BMs are poorly understood. In the present study, target exome sequencing of 560 cancer‑associated genes in samples from 52 patients with brain metastasis from various primary sites was performed. Recurrent mutations for BMs from distinct origins were identified. There were both genetic homogeneity and heterogeneity between BMs and primary lung tumor tissues. The mutation rate of the major cancer driver gene, TP53, was consistently high in both the primary lung cancer sites and BMs, while some genetic alterations, associated with DNA damage response deficiency, were specifically enriched in BMs. The mutational signatures enriched in BMs could serve as actionable targets for treatment. The mutation in the primary site of the potential brain metastasis driver gene, nuclear mitotic apparatus protein 1 (NUMA1), affected the progression‑free survival time of patients with lung cancer, and patients with the NUMA1 mutation in BMs had a good prognosis. This suggested that the occurrence and clinical outcome of brain metastases could be independent of each other.
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March-2021
Volume 21 Issue 3

Print ISSN: 1792-1074
Online ISSN:1792-1082

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  • Journal Metrics
  • Impact Factor: 2.9
  • Ranked Oncology
    (total number of cites)
  • CiteScore: 6.3
  • CiteScore Rank: Q2: #119/366 Oncology
  • Source Normalized Impact per Paper (SNIP): 0.725
  • SCImago Journal Rank (SJR): 0.639
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Spandidos Publications style
Zhang D, Wang X, Ma S, Li P, Xue F, Mao B, Guan X, Zhou W, Peng J, Su K, Su K, et al: Targeted exome sequencing for the identification of common mutational signatures and potential driver mutations<br />for brain metastases and prognosis. Oncol Lett 21: 179, 2021
APA
Zhang, D., Wang, X., Ma, S., Li, P., Xue, F., Mao, B. ... Jia, W. (2021). Targeted exome sequencing for the identification of common mutational signatures and potential driver mutations<br />for brain metastases and prognosis. Oncology Letters, 21, 179. https://doi.org/10.3892/ol.2021.12440
MLA
Zhang, D., Wang, X., Ma, S., Li, P., Xue, F., Mao, B., Guan, X., Zhou, W., Peng, J., Su, K., Zhang, C., Jia, W."Targeted exome sequencing for the identification of common mutational signatures and potential driver mutations<br />for brain metastases and prognosis". Oncology Letters 21.3 (2021): 179.
Chicago
Zhang, D., Wang, X., Ma, S., Li, P., Xue, F., Mao, B., Guan, X., Zhou, W., Peng, J., Su, K., Zhang, C., Jia, W."Targeted exome sequencing for the identification of common mutational signatures and potential driver mutations<br />for brain metastases and prognosis". Oncology Letters 21, no. 3 (2021): 179. https://doi.org/10.3892/ol.2021.12440