The SALSA MLPA
Probemix P301 Medulloblastoma mix 1 is a research use only (RUO)
assay for the detection of deletions or duplications in the chromosomes 6, 14q, 16 and 17, 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 P301-B1 Medulloblastoma mix 1 contains 47 MLPA probes with amplification products between 126 and 492 nucleotides (nt). This includes 35 probes for the chromosomes 6, 14q, 16 and 17. In addition, 12 reference probes are included that target relatively copy number stable regions in various cancer types including medulloblastoma. Partial/complete probe sequences and the identity of the genes detected by the reference probes are available in Table 2b of the product description and online (www.mlpa.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.mlpa.com