Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography

  • Authors:
    • Jae-Hong Kim
    • In-Soo Kim
    • Sun-Young Kwon
    • Byeong-Churl Jang
    • Seong-Il Suh
    • Dong-Hoon Shin
    • Chang-Ho Jeon
    • Eun-Ik Son
    • Sang-Pyo Kim
  • View Affiliations

  • Published online on: July 1, 2006     https://doi.org/10.3892/ijmm.18.1.27
  • Pages: 27-32
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Abstract

The NF2 tumor suppressor gene, located in chromosome 22q12, is involved in the development of sporadic meningiomas of the nervous system. In order to evaluate the role of the NF2 gene in sporadic meningiomas, we analyzed the entire coding regions of the NF2 gene in a group of 42 sporadic meningiomas: 17 meningothelial, 11 transitional, 11 fibrous, one secretory, one atypical, and one malignant subtype, using denaturing high-performance liquid chromatography (DHPLC) and sequence analysis. Twenty-one mutations were identified in 20 patients with an overall mutation detection rate of 47.6%. The mutations included nine deletions (exons 1, 2, 5, 10, and 12), resulting in a frameshift, four non-sense mutations (exons 1, 2, and 7), four splice errors (exons 4, 5, 7, and 12), two missense mutations (exon 5) and two silent mutations (exon 11). Among these, 14 novel mutations were also identified in the present study. All mutations were noted in the first 12 exons, the region of homology with the ezrin-moesin-radixin protein. Furthermore, an association between NF2 mutations and histologic subtypes were observed; NF2 mutations were more frequent in fibrous meningiomas (8/11, 73%) and transitional meningiomas (6/11, 55%), than in meningothelial variant (5/17, 29%). These results provide evidence that mutations in the NF2 gene play an important role in the development of sporadic meningiomas as well as indicating a different tumorigenesis of these meningioma variants.

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July 2006
Volume 18 Issue 1

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Kim J, Kim I, Kwon S, Jang B, Suh S, Shin D, Jeon C, Son E and Kim S: Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography. Int J Mol Med 18: 27-32, 2006
APA
Kim, J., Kim, I., Kwon, S., Jang, B., Suh, S., Shin, D. ... Kim, S. (2006). Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography. International Journal of Molecular Medicine, 18, 27-32. https://doi.org/10.3892/ijmm.18.1.27
MLA
Kim, J., Kim, I., Kwon, S., Jang, B., Suh, S., Shin, D., Jeon, C., Son, E., Kim, S."Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography". International Journal of Molecular Medicine 18.1 (2006): 27-32.
Chicago
Kim, J., Kim, I., Kwon, S., Jang, B., Suh, S., Shin, D., Jeon, C., Son, E., Kim, S."Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography". International Journal of Molecular Medicine 18, no. 1 (2006): 27-32. https://doi.org/10.3892/ijmm.18.1.27