On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma.

Abstract:

BACKGROUND: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. Here, we have performed an array-CGH and qPCR characterization of two patients with constitutional partial 2p trisomy including MYCN genomic region. RESULTS:One 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. CONCLUSIONS:It appears that constitutional rearrangements involving chromosome 2p24 may play role in NB development.

journal_name

Mol Cytogenet

journal_title

Molecular cytogenetics

authors

Lipska BS,Koczkowska M,Wierzba J,Ploszynska A,Iliszko M,Izycka-Swieszewska E,Adamkiewicz-Drozynska E,Limon J

doi

10.1186/1755-8166-6-43

subject

Has Abstract

pub_date

2013-10-16 00:00:00

pages

43

issue

1

issn

1755-8166

pii

1755-8166-6-43

journal_volume

6

pub_type

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