Open Access

Expression and mutation of c-Kit in intracranial germ cell tumors: A single-centre retrospective study of 30 cases in China

  • Authors:
    • Yu‑Ping Gao
    • Ji‑Yao Jiang
    • Qiang Liu
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  • Published online on: March 23, 2016     https://doi.org/10.3892/ol.2016.4373
  • Pages: 2971-2976
  • Copyright: © Gao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Although primary central nervous system (CNS) germ cell tumors (GCTs) are one of the most treatable types of malignant brain tumor, a subset of patients remain resistant to standard chemotherapy. Gain-of-function mutations of the c-Kit gene, and KIT protein expression, have been observed in a number of GCTs, including testicular seminoma, ovarian dysgerminoma and mediastinal seminoma in various ethnic groups. Although a small number of studies have reported the role of c-Kit in CNS GCTs, few have focused on Chinese patients exhibiting CNS GCTs. In the present study, the frequency and location of c-Kit mutations and KIT protein expression levels in CNS GCTs were investigated in 30 patients, between January 1994 and October 2014. Immunohistochemical assays suggested that KIT protein expression was present in 59.1% patients (66.7% in males and 42.9% in females); however, no statistically significant correlation was identified between KIT protein expression and patient clinicopathological features. By performing PCR amplification and direct sequencing, 4 mutational hot spots of the c‑Kit gene (exons 9, 11, 13 and 17) were examined, and c‑Kit gene mutation was identified in 1/17 (5.9%) CNS germinoma cases. This mutation was located in exon 11 at codon 557-558 WK (Tryptophan-Lysine). No c-Kit gene mutations were detected in non-germinomatous GCTs. Imatinib, a tyrosine kinase inhibitor, may be an effective treatment against standard chemotherapy‑resistant CNS germinoma patients exhibiting c-Kit mutations.
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May-2016
Volume 11 Issue 5

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

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Spandidos Publications style
Gao YP, Jiang JY and Liu Q: Expression and mutation of c-Kit in intracranial germ cell tumors: A single-centre retrospective study of 30 cases in China. Oncol Lett 11: 2971-2976, 2016
APA
Gao, Y., Jiang, J., & Liu, Q. (2016). Expression and mutation of c-Kit in intracranial germ cell tumors: A single-centre retrospective study of 30 cases in China. Oncology Letters, 11, 2971-2976. https://doi.org/10.3892/ol.2016.4373
MLA
Gao, Y., Jiang, J., Liu, Q."Expression and mutation of c-Kit in intracranial germ cell tumors: A single-centre retrospective study of 30 cases in China". Oncology Letters 11.5 (2016): 2971-2976.
Chicago
Gao, Y., Jiang, J., Liu, Q."Expression and mutation of c-Kit in intracranial germ cell tumors: A single-centre retrospective study of 30 cases in China". Oncology Letters 11, no. 5 (2016): 2971-2976. https://doi.org/10.3892/ol.2016.4373