Exploring Correlation of PSEN1 E280A Mutation with Clinical Features in Patients with Glioma Related Seizures
Exploring Correlation of PSEN1 E280A Mutation with Clinical Features in Patients with Glioma Related Seizures
Zhi Qiang Gao*, Dan Dan Zhang, Qin Gmei Qin, Xiu Xiu Li, Li Li, Yan Zhong Xue and Shifeng Guo
ABSTRACT
The correlation between Presenilin-1 (PSEN1) E280A mutation and clinical characteristics of glioma-related seizures (GRS) was explored. For this purpose, brain tissue samples were collected from 40 patients diagnosed with glioneuronal tumors (GNTs), including 25 cases of gangliogliomas (GGs) and 15 cases of dysembryoplastic neuroepithelial tumors (DNTs). Then, the DNA of GNTs tissues was extracted, and the PSEN1 E280A mutation was detected by sequencing. Finally, the correlation of PSEN1 E280A mutation with clinical characteristics was analyzed. PSEN1 E280A mutation was detected in 16 GNTs patients (44% in GGs (11/25) and 33.3% in DNTs (5/15)). PSEN1 E280A mutation was obviously elevated in females (10/16, 62.5%) versus in males (6/24, 25%) (P = 0.025). Meanwhile, more extensive seizure types were present in GNTs with PSEN1 mutations versus wilds (P = 0.001), but there was no clear correlation between PSEN1 and clinical manifestations like age of seizure, operative age, duration and absence of seizures after surgery. To conclude, PSEN1 E280A mutation is present in GNTs seizures patients, and greatly associated with multiple types of seizures and gender. The requirement of larger sample studies and long-term follow-up is implemented for further confirmation.
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