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

作者：Djos Anna; Fransson Susanne; Kogner Per; Martinsson Tommy^*

来源：BMC Medical Genetics, 2013, 14: 102.

DOI：10.1186/1471-2350-14-102

• Neuroblastoma
• STAG2
• Aneuploidy
• Numerical aberrations
• Chromosomal instability

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%26apos;s sarcoma, melanoma and glioblastoma. %26lt;br%26gt;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. %26lt;br%26gt;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. %26lt;br%26gt;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.

• 出版日期2013-10-2