General information
The SALSA MLPA Probemix P105 Glioma-2 is a research use only (RUO) assay for the detection of deletions or duplications in the following genes PDGFRA (4q12), EGFR (7p11.2), CDKN2A (9p21.3), PTEN (10q23.31), CDK4, MIR26A2, MDM2 (12q14-q15) and NFKBIA (14q13.2) and TP53 (17p13.1).

Gliomas are the most common primary brain tumours and account for one third of central nervous system (CNS) tumours. Gliomas comprise a very heterogeneous group of CNS neoplasms derived from glial cells. There are several oncogenes and tumour suppressor genes, which have been shown to undergo copy number changes in gliomas. Somatic mutations, disruptions, or copy number aberrations in three critical signalling pathways, a) the RTK/PI3K pathway (involving e.g. EGFR, PDGFRA and PTEN genes), b) the p53 pathway (involving e.g. CDKN2A, MDM2 and TP53 genes) and c) the RB pathway (involving e.g. CDKN2A and CDK4 genes), are suggested to contribute to the development of gliomas (Cancer Genome Atlas Research Network 2008). Please see Table 2 in the Product Description for more details.

Epidermal growth factor receptor (EGFR) and its ligands are cell signalling molecules involved in diverse cellular functions. These include cell proliferation, differentiation, motility and survival, and tissue development. Glioblastomas often express EGFR variant III (EGFRvIII), a constitutively active genomic deletion variant of EGFR which is characterised by deletions of exons 2-7 of the EGFR gene (Sugawa et al. 1990). This probemix allows detection of deletions of EGFR that result in EGFRvIII. Please see Table 2 in the Product Description for more details.

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P105-D3 Glioma-2 contains 56 MLPA probes with amplification products between 126 and 500 nucleotides (nt). This includes in total 43 probes for the PDGFRA, EGFR, CDKN2A, PTEN, CDK4, MIR26A2, MDM2, NFKBIA and TP53 genes. In addition, 13 reference probes are included that detect target relatively copy number stable regions in various cancer types including gliomas. Complete probe sequences and the identity of the genes detected by the reference probes are available in Table 3 of the Product Description and online (www.mrcholland.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com.