致癌与突变杂志

抽象的

EGFR and PTEN Gene Mutation Status in Glioblastoma Patients and their Prognostic Impact on Patient's Survival

Sajad Hussain Arif, Arshad A. Pandith, Abdul Rashid Bhat, Altaf Umar Ramzan, Nayil Khursheed Malik, Sarabjit S. Chibber, Abrar A. Wani, Rehana Tabasum and Altaf Kirmani

Glioblastoma multiforme (GBM) is the most aggressive form of glioma. Genetic analysis of GBM tumorigenesis has identified several alterations in particular EGFR and PTEN genes. The purpose of the present study was to analyze the frequency and distribution of EGFR/PTEN mutations in GBM and to determine their relationship with different clinicopathological characteristics.

The paired tumor and adjacent normal tissue specimens of 40 consecutive patients with GBM were examined and DNA preparations were evaluated for the occurrence of EGFR/PTEN gene mutations by PCR-SCCP and DNA sequencing.

In total, 20 of 40 (50%) GBM tumours had mutation of either an EGFR or PTEN. EGFR gene mutation was present in 13 (32.5%) and PTEN gene mutations in 07 of 40 (17.5%) patients. Both EGFR/PTEN mutations were found in 03 of 40 samples (7.5%). The samples which showed EGFR mutations but were negative for PTEN were detected in 10 of 40 (25%) patients (EGFR+ve/PTEN-ve). The samples with PTEN +ve/EGFR –ve were present in 04 of 40 (10%) patients. Median PFS and Median OS was better in patients with EGFR +ve/PTEN -ve (p>0.05).

EGFR and PTEN gene mutations exist in our population with GBM and play a significant role in its development with better survival for patients for EGFR+ve/PTE –ve mutation status.