AUTHOR=Biswas Swethajit , Wood Madeleine , Joshi Abhijit , Bown Nick , Strain Lisa , Martinsson Tommy , Campbell James , Ashworth Alan , Swain Amanda 

TITLE=Exome Sequencing of an Adult Pituitary Atypical Teratoid Rhabdoid Tumor

JOURNAL=Frontiers in Oncology

VOLUME=5

YEAR=2015

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2015.00236

DOI=10.3389/fonc.2015.00236

ISSN=2234-943X

ABSTRACT=<p>Atypical teratoid rhabdoid tumors (AT/RTs) are rare pediatric brain tumors characterized by bialleic loss of the <italic>SMARCB1</italic> 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 <italic>SMARCB1</italic> inactivation, may be required for its pathogenesis.</p>