Abstract

Atypical teratoid rhabdoid tumors (AT/RTs) are rare pediatric brain tumors characterized by bialleic loss of the SMARCB1 tumor suppressor gene. In contrast to pediatric AT/RT that has a simple genome, very little is known about the adult AT/RT genomic landscape. Using a combination of whole-exome sequencing and high-resolution SNP array in a single adult pituitary AT/RT, we identified a total of 47 non-synonymous mutations, of which 20 were predicted to cause non-conservative amino acid substitutions, in addition to a subclone of cells with trisomy 8. We suggest that adult AT/RT may not be markedly dissimilar to other adult brain tumors where mutations in a range of genes, reflecting the functional specialization of different brain regions, but including SMARCB1 inactivation, may be required for its pathogenesis.

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CITATION STYLE

APA

S., B., M., W., A., J., N., B., L., S., T., M., … A., S. (2015). Exome sequencing of an adult pituitary atypical teratoid rhabdoid tumor. Frontiers in Oncology, 5(OCT). https://doi.org/10.3389/fonc.2015.00236 LK  - http://sfx.library.uu.nl/utrecht?sid=EMBASE&issn=2234943X&id=doi:10.3389%2Ffonc.2015.00236&atitle=Exome+sequencing+of+an+adult+pituitary+atypical+teratoid+rhabdoid+tumor&stitle=Front.+Oncol.&title=Frontiers+in+Oncology&volume=5&issue=OCT&spage=&epage=&aulast=Biswas&aufirst=Swethajit&auinit=S.&aufull=Biswas+S.&coden=&isbn=&pages=-&date=2015&auinit1=S&auinitm=

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