Abstract
Neuroblastoma (NB) is a childhood cancer derived from neural crest cells, with a highly variable clinical course and biologic behavior. Several genomic imbalances correlate to prognosis in NB, with structural rearrangements, including MYCN amplification, in a neardiploid setting typically signifying high-risk tumours and numerical changes in a near-triploid setting signifying low-risk tumours.
At present, many different techniques are used for detection of these copy number changes including standard chromosome karyotyping, comparative genomic hybridization (CGH), fluorescent in situ hybridization (FISH) and array CGH. Now, a new methodology called multiplex ligation dependent probe amplification (MLPA) has been developed.
This new approach is based on polymerase chain reaction (PCR) amplification of ligated probes hybridized to target DNA sequences. MLPA is a highly sensitive, a rapid, accurate, reliable, and cost-effective.
ENAQUA use neuroblastoma MLPA kit as a standard for detection genetic changes in neuroblastoma. We found high level concordance in FISH, CGH and MLPA investigations.