Distinct molecular signatures in pediatric infratentorial glioblastomas defined by aCGH

Comparative multidimensional molecular analyses of pediatric diffuse intrinsic pontine glioma reveals distinct molecular subtypes

“…The cooperation of tumor consortiums, relative increase in the safety and frequency of stereotactic tumor biopsy, and postmortem tissue collection have facilitated recent molecular analyses of rare DIPG tissue specimens [2,4,8,24,37]. These studies demonstrate that DIPGs exhibit distinct molecular characteristics compared to HGAs, and that DIPG represents a biologically heterogeneous group of brainstem tumors with clinical implications [3,6,20,33,36,38,43,47,49,58]. In addition, missense mutations Lys27Met (K27M) and Gly34Arg/Val (G34R/V) in genes encoding Histone H3.3 ( H3F3A ) and H3.1 ( HIST3H1B ) have recently been identified in pediatric gliomas, and the H3 K27M driver mutation correlated with a clinically and biologically distinct subgroup of DIPG patients [26,27,45].…”

Pediatric spinal glioblastoma multiforme: current treatment strategies and possible predictors of survival

“…Most cases reported in the literature are presented as a subset of a larger group of related tumors [2,3], and only a few studies specifically address spinal glioblastomas in children [1,4]. Pediatric GBM differs in etiology and characteristics from its adult counterpart [1,5], and it is therefore necessary to approach PSGBM as a unique entity. In an attempt to answer questions regarding the prognostic indicators and management of PSGBM, we retrospectively analyzed eight pathologyproven cases of PSGBM, with attention to clinical presentation, surgical variables, functional outcomes, and overall survival.…”

Distinct genetic alterations in pediatric glioblastomas

“…Regarding MGMT methylation in the pGBs, two conflicting reports have been published: Srivastava et al [11] found a MGMT methylation rate (50 %) similar to aGBs, whereas our group [23] noted lower rates of methylation (6 and 16 % by methylation-specific multiplexligation-dependent probe amplification assay and MGMT methylation-specific polymerase chain reaction analysis, respectively). MGMT methylation status is noteworthy because it may affect the therapeutic efficacy of alkylating agents, such as temozolomide [24].…”

“…The mean age of the patients was 8.8 (range, [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18] years, and the male to female ratio was nearly 2.3:1. Diagnoses were based on histological and immunohistochemical features according to the 2007 WHO classification system and were reviewed by three pathologists (PSH, BSJ, and KSH).…”

“…Some chromosomal gains, losses, and amplifications observed frequently in aGBs have not been well characterized in pGBs [11]. In pediatric HGGs, the reported frequencies of EGFR gene amplification and EGFR vIII mutations and deletions are low (11, 0, and 17 %, respectively) [12].…”