| Autor: |
Ominato, Jun, Fukuchi, Takeo, Sato, Ayako, Yamaguchi, Naoyuki, Kobayashi, Kazue, Cho, Hiroyuki, Oyama, Tokuhide, Ajioka, Yoichi |
| Zdroj: |
Applied Immunohistochemistry & Molecular Morphology; October 2018, Vol. 26 Issue: 9 p658-663, 6p |
| Abstrakt: |
GNAQand GNA11mutations are thought to be important for the tumorigenesis of uveal melanoma. Although previous studies have reported on mutation rates in cases of uveal melanoma, presently, no such report for the Japanese population exists. In this study, we examined the frequency of GNAQand GNA11somatic mutations in cases of uveal melanoma in Japan and their relationship with clinicopathologic features or Ki-67-positive cell rates (Ki-67 labeling index: Ki-67 LI) using immunofluorescence methods. The study involved 19 cases of uveal melanoma. We extracted the template DNA from formalin-fixed, paraffin-embedded specimens using a DNA extraction kit. We amplified the DNA sequences of GNAQand GNA11using polymerase chain reaction and analyzed mutations by direct sequencing. We evaluated Ki-67 LI using immunofluorescence methods. The frequencies of GNAQand GNA11somatic mutations were 26.3% (5/19) and 31.6% (6/19), respectively. The GNAQand GNA11mutations were mutually exclusive, as indicated in previous reports. The frequency of GNA11mutations was significantly higher in epithelioid cells; however, no significant association between GNAQmutations and cell type was evident, and there was no significant difference in Ki-67 LI between the mutation-positive and mutation-negative tumors. GNAQand GNA11mutations were identified in cases of uveal melanoma in Japan, although at lower frequencies than in white counterparts. The mutation frequency of GNA11was significantly higher in epithelioid cells. |
| Databáze: |
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