| Summary: | Atypical teratoid rhabdoid tumours (AT / RT) are rare pediatric brain tumours characterised by bialleic loss of the SMARCB1 tumor suppressor gene. In contrast to pediatric AT / RT which 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 nonsynonymous mutations, of which 20 were predicted to cause nonconservative 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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