Analysis of IDH mutation, 1p/19q deletion, and PTEN loss delineates prognosis in clinical low-grade diffuse gliomas

摘要: See the editorial by Jenkins, on pages 891–892. Diffuse gliomas are most common intrinsic primary brain tumors in humans. World Health Organization criteria provide a scheme to segment diffuse from low grade (II) through intermediate or anaplastic (grade III) malignant IV; also known as glioblastoma multiforme [GBM]). Grade II have relatively favorable but highly variable prognosis. Patients with III lesions somewhat shorter still survival. Those GBM shortest lifespan least variability. There several histological subtypes of low- and intermediate-grade gliomas, including more astrocytomas (AII, AIII), oligodendrogliomas (OII, OIII), mixed oligoastrocytomas (OAII, OAIII), ependymomas (EII, EIII).1 Because prognosis is response therapy unclear, management patients who present II–III controversial. The development markers that reliably predict behavior these would be useful both for counseling treatment planning this group.2 For some time, it has been recognized transformation glial cells associated number genetic events, p53 mutations, 1p/19q codeletion/translocation, loss heterozygosity (LOH) chromosomes 10 17p, well amplification epidermal growth factor receptor (EGFR).3,4 Recently, mutations isocitrate dehydrogenase (IDH) genes 1 2 (IDH1 IDH2) described majority oligodendrogliomas, minority GBM.5–8 IDH mutation occurring CGT CAT at codon 132 exon 4 IDH1, resulting an amino acid exchange arginine histidine (R132H). It shown whose IV carry better overall than IDH-mutation negative.9–12 impact status (mIDH) not clear. The study was designed test whether survival (OS) progression free rate (PFR) clinically low-grade can best predicted pathological grading alone combination molecular markers.