Exome Sequencing of an Adult Pituitary Atypical Teratoid Rhabdoid Tumor (AT / RT)

• Main Authors: SWETHAJIT eBISWAS, MADELEINE eWOOD, ABHIJIT eJOSHI, NICK eBOWN, LISA eSTRAIN, TOMMY eMARTINSSON, JAMES eCAMPBELL, ALAN eASHWORTH, AMANDA eSWAIN
• Format: Article
• Language: English
• Published: Frontiers Media S.A. 2015-10-01
• Series: Frontiers in Oncology
• Subjects: Adult; exome sequencing; copy number variation; trisomy 8; SMARCB1; Atypical teratoid rhabdoid tumour
• Online Access: http://journal.frontiersin.org/Journal/10.3389/fonc.2015.00236/full

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.