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Concomitant DDX1 and MYCN gain in neuroblastoma.

Abstract：

:DDX1, a gene mapping to the 2p24 region, has been observed to be co-amplified with MYCN in neuroblastoma. Co-amplification of the DDX1 gene is a consequence of the short physical distance between the two genes. Recently, it has been found that neuroblastoma cells can show a low increase in MYCN gene copy number, defined as MYCN gain. We studied 13 neuroblastomas with MYCN gain to evaluate the status of the DDX1 gene. We investigated DDX1/MYCN gain by double-colour FISH on interphase nuclei. All cases showed concomitant low extra copy number of DDX1 and MYCN. Heterogeneous distribution of nuclei displaying DDX1/MYCN gain was observed in almost all tumours, suggesting a clonal evolution of cells with DDX1/MYCN gain. This is the first report that shows DDX1 co-gained with MYCN in neuroblastoma and indicates that DDX1 over-representation is closely associated with an increase in MYCN copy number in neuroblastoma cells. Since DDX1 has already been found co-amplified with MYCN, DDX1 gain seems to be a further rearrangement due to the physical proximity of the two genes. Moreover, all patients with DDX1/MYCN gain show a good overall survival but a high frequency of adverse events.

journal_name

Cancer Lett

journal_title

Cancer letters

authors

Defferrari R,Tonini GP,Conte M,Papio F,Sementa AR,Valent A,Schena F,Perri P,Mazzocco K

doi

10.1016/j.canlet.2007.05.010

subject

Has Abstract

pub_date

2007-10-18 00:00:00

pages

56-63

issue

1

eissn

0304-3835

issn

1872-7980

pii

S0304-3835(07)00246-7

journal_volume

256

pub_type

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