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Exome sequencing of an adult pituitary atypical teratoid rhabdoid tumor

Journal article
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
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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