Abstract
BackgroundChromosomal 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.MethodAs 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 conclusionAs no STAG2 mutation was detected in this study, we conclude that inactivating mutation of STAG2 is not likely causative to neuroblastoma aneuploidy.
Highlights
Chromosomal instability is a hallmark of human cancer caused by errors in mitotic control and chromosome segregation
As no STAG2 mutation was detected in this study, we conclude that inactivating mutation of STAG2 is not likely causative to neuroblastoma aneuploidy
The coding sequence of the STAG2 gene was screened with Sanger sequencing and targeted re-sequencing in a panel of 37 NB tumors and eleven NB cell lines (Tables 1 and 2)
Summary
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. Solomon et al, showed the presence of inactivating mutations in the STAG2 gene located at Xq25 in primary tumors and cancer cell lines originating from glioblastoma, melanoma and Ewing’s sarcoma. NB tumors with numerical aberrations (i.e. only whole chromosome gains and/or losses) without other segmental alterations instead have excellent outcome [6] and the underlying mechanisms causing aneuploidy in NB tumors are yet unknown
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