The SALSA MLPA Probemix P303 Medulloblastoma mix 3 is a research use only (RUO)
assay for the detection of deletions or duplications in the chromosomes 1, 4q, 5q, 8, 10 and 20, which are thought to be associated with medulloblastoma.
Medulloblastoma (MB) is the most common paediatric primary central nervous system (CNS) tumour and accounts for between 15% and 20% of CNS tumours in patients under the age of 20. It is a highly invasive embryonal neuroepithelial tumour that arises in the cerebellum and has a tendency to disseminate throughout the CNS early in its course. Overall survival is 50-60% at five years, although this decreases to 30% in the longer term due to local recurrence and/or metastasis. There are four distinct molecular subtypes of MB (WNT, sonic hedgehog (SHH), Group 3, and Group 4) which can be used for patient risk stratification and that have the potential to identify new therapeutic strategies for the treatment of MB (Taylor et al. 2012). These molecular subtypes of MB include also characteristic and recurrent copy number alterations, which are covered by the P301, P302 and P303 Medulloblastoma probemixes.
The SALSA MLPA Probemix P303-A3 Medulloblastoma mix 3 contains 43 MLPA probes with amplification products between 121 and 495 nucleotides (nt). This includes 31 probes for the chromosomes 1, 4q, 5q, 8, 10 and 20. In addition, 12 reference probes are included that target relatively copy number stable regions in various cancer types including medullobalstoma. Complete probe sequences and the identity of the genes detected by the reference probes are available in Table 2b and online (www.mrcholland.com