A novel somatic MAPK1 mutation in primary ovarian mixed germ cell tumors

  • Authors:
    • Yang Zou
    • Wei Deng
    • Feng Wang
    • Xiao‑Hong Yu
    • Fa‑Ying Liu
    • Bi‑Cheng Yang
    • Mei‑Zhen Huang
    • Jiu‑Bai Guo
    • Qiu‑Hua Xie
    • Ming He
    • Ou‑Ping Huang
  • View Affiliations

  • Published online on: November 5, 2015     https://doi.org/10.3892/or.2015.4402
  • Pages: 725-730
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Abstract

A recent exome-sequencing study revealed prevalent mitogen-activated protein kinase 1 (MAPK1) p.E322K mutation in cervical carcinoma. It remains largely unknown whether ovarian carcinomas also harbor MAPK1 mutations. As paralogous gene mutations co‑occur frequently in human malignancies, we analyzed here a total of 263 ovarian carcinomas for the presence of MAPK1 and paralogous MAPK3 mutations by DNA sequencing. A previously unreported MAPK1 p.D321N somatic mutation was identified in 2 out of 18 (11.1%) ovarian mixed germ cell tumors, while no other MAPK1 or MAPK3 mutation was detected in our samples. Of note, OCC‑115, the MAPK1‑mutated sample with bilateral cancerous ovaries affected, harbored MAPK1 mutation in the right ovary while retained the left ovary intact, implicating that the genetic alterations underlying ovarian mixed germ cell tumor may be different, even in patients with similar genetic backgrounds and tumor microenvironments. The results of evolutionary conservation and protein structure modeling analysis implicated that MAPK1 p.D321N mutation may be pathogenic. Additionally, mutations in protein phosphatase 2 regulatory subunit α (PPP2R1A), ring finger protein 43 (RNF43), DNA directed polymerase ε (POLE1), ribonuclease type III (DICER1), CCCTC‑binding factor (CTCF), ribosomal protein L22 (RPL22), DNA methyltransferase 3α (DNMT3A), transformation/transcription domain‑associated protein (TRRAP), isocitrate dehydrogenase (IDH)1 and IDH2 were not detected in ovarian mixed germ cell tumors, implicating these genetic alterations may be not associated with MAPK1 mutation in the development of this malignancy. The present study identified a previously unreported MAPK1 mutation in ovarian mixed germ cell tumors for the first time, and this mutation may be actively involved in the tumorigenesis of this disease.
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February-2016
Volume 35 Issue 2

Print ISSN: 1021-335X
Online ISSN:1791-2431

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Spandidos Publications style
Zou Y, Deng W, Wang F, Yu XH, Liu FY, Yang BC, Huang MZ, Guo JB, Xie QH, He M, He M, et al: A novel somatic MAPK1 mutation in primary ovarian mixed germ cell tumors. Oncol Rep 35: 725-730, 2016
APA
Zou, Y., Deng, W., Wang, F., Yu, X., Liu, F., Yang, B. ... Huang, O. (2016). A novel somatic MAPK1 mutation in primary ovarian mixed germ cell tumors. Oncology Reports, 35, 725-730. https://doi.org/10.3892/or.2015.4402
MLA
Zou, Y., Deng, W., Wang, F., Yu, X., Liu, F., Yang, B., Huang, M., Guo, J., Xie, Q., He, M., Huang, O."A novel somatic MAPK1 mutation in primary ovarian mixed germ cell tumors". Oncology Reports 35.2 (2016): 725-730.
Chicago
Zou, Y., Deng, W., Wang, F., Yu, X., Liu, F., Yang, B., Huang, M., Guo, J., Xie, Q., He, M., Huang, O."A novel somatic MAPK1 mutation in primary ovarian mixed germ cell tumors". Oncology Reports 35, no. 2 (2016): 725-730. https://doi.org/10.3892/or.2015.4402