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Aneuploidy in neuroblastoma tumors is not associated with inactivating point mutations in the STAG2 gene

Anna Djos1, Susanne Fransson1, Per Kogner2 and Tommy Martinsson1*

Author Affiliations

1 Department of Clinical Genetics, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE-413 45 Gothenburg, Sweden

2 Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska Institute, Karolinska University Hospital, SE-17176 Stockholm, Sweden

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BMC Medical Genetics 2013, 14:102  doi:10.1186/1471-2350-14-102

Published: 2 October 2013



Chromosomal instability is a hallmark of human cancer caused by errors in mitotic control and chromosome segregation. STAG2 encodes a subunit of the cohesion complex that participates in mitotic chromatid separation and was recently found to show low expression and inactivating mutations in Ewing’s sarcoma, melanoma and glioblastoma.

In the childhood tumor neuroblastoma (NB) segmental chromosomal alterations are associated with poor prognosis whereas tumors displaying whole chromosome gains and losses have a much better prognosis.


As the genetic contribution to aneuploidy is unknown in NB, we investigated the presence of STAG2 mutations through sequence analysis of all 33 coding exons in 37 primary NB tumors.

Results and conclusion

As no STAG2 mutation was detected in this study, we conclude that inactivating mutation of STAG2 is not likely causative to neuroblastoma aneuploidy.

Neuroblastoma; STAG2; Aneuploidy; Numerical aberrations; Chromosomal instability