Abstract
BackgroundMYCN oncogene amplification is the most important prognostic factor in neuroblastoma. 25% neuroblastoma tumors have somatic amplifications at this locus but little is known about its constitutional aberrations and their potential role in carcinogenesis. Here, we have performed an array-CGH and qPCR characterization of two patients with constitutional partial 2p trisomy including MYCN genomic region.ResultsOne of the patients had congenital neuroblastoma and showed presence of minute areas of gains and losses within the common fragile site FRA2C at 2p24 encompassing MYCN. The link between 2p24 germline rearrangements and neuroblastoma development was reassessed by reviewing similar cases in the literature.ConclusionsIt appears that constitutional rearrangements involving chromosome 2p24 may play role in NB development.
Highlights
MYCN oncogene amplification is the most important prognostic factor in neuroblastoma. 25% neuroblastoma tumors have somatic amplifications at this locus but little is known about its constitutional aberrations and their potential role in carcinogenesis
Two patients with constitutional aberration including partial 2p trisomy detected by classical cytogenetic studies were further evaluated using array-CGH
That the inherited unbalanced chromosomal aberration at 2p may give grounds for nonrandom clustering of chromosomal breaks at the FRA2C leading to MYCN amplicon formation
Summary
MYCN oncogene amplification is the most important prognostic factor in neuroblastoma. 25% neuroblastoma tumors have somatic amplifications at this locus but little is known about its constitutional aberrations and their potential role in carcinogenesis. 25% neuroblastoma tumors have somatic amplifications at this locus but little is known about its constitutional aberrations and their potential role in carcinogenesis. Since constitutional deletions and translocations are often the first indicators of the presence of TSGs, the pursue for patients with neuroblastoma (NB) and a concomitant constitutional genomic disorder has started. 30% of primary NB tumors, being one of the most common somatic cytogenetic abnormalities of recognizable prognostic significance [1,2]. It has been proposed as the putative locus for NB TSG, so far no major NB predisposition gene has been identified in this region [3]
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