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| Authors |
S. Biswas M. Wood A. Joshi N. Bown L. Strain Tommy Martinsson J. Campbell A. Ashworth A. Swain |
|---|---|
| Published in | Frontiers in Oncology |
| Volume | 5 |
| Issue | Article 236 |
| ISSN | 2234-943X |
| Publication year | 2015 |
| Published at |
Institute of Biomedicine, Department of Medical and Clinical Genetics |
| Language | en |
| Links |
dx.doi.org/10.3389/fonc.2015.00236 |
| Keywords | Adult, Atypical teratoid rhabdoid tumor, Copy number variation, Exome sequencing, SMARCB1, Trisomy 8 |
| Subject categories | Clinical Medicine |
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. © 2015 Biswas, Wood, Joshi, Bown, Strain, Martinsson, Campbell, Ashworth and Swain.
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