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Background  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.    Method  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.

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