Abstract

INTRODUCTION: Glioblastoma multiforme (GBM) is an extremely aggressive tumor with a very short survival time. New technologies developed in recent years have given us a deeper insight into the tumorgenesis of GBMs. METHODS AND RESULTS: We performed a genome-wide copy number and loss of heterozygosity analyzed on DNA extracted from 5 formalin fixed paraffin embedded samples of GBMs using molecular inversion probes (OncoScan FFPE Express, Affymetrix). Beside the known deleted and amplified regions, we found in all samples amplification in chromosome X (Xq11.1 -Xq11.2) that was not described before. From the amplified genes in this region we have analyzed the expression of 5 genes: ARHGEF9, ZC4H2, SPIN4, MTMR8 and ASB12 by quantitative real-time RT PCR (N = 30) and found a significant amplification (above 2) in 93% of the samples for SPIN4 and ASB12. CONCLUSION: SPIN4 is a member of the spindling family of proteins which play a crucial part in mitosis. High expression of SPIN1 was previously found to play a role in ovarian cancer and ectopic expression of SPIN1 promoted cancer cell proliferation and activation of the WNT signaling pathway. ASB12 is part of the ankyrin repeat and SOCS box (ASB) family that is composed of 18 proteins from ASB1 to ASB18. This family was shown to be highly expressed in different types of cancer and is suggested to be involved in tumorgenesis. Thus we hypothesis that these genes might play a role in brain tumors

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