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Exome sequencing of an adult pituitary atypical teratoid rhabdoid tumor

Lookup NU author(s): Dr Swethajit Biswas, Dr Nicholas Bown


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© 2015 Biswas, Wood, Joshi, Bown, Strain, Martinsson, Campbell, Ashworth and Swain. 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.

Publication metadata

Author(s): Biswas S, Wood M, Joshi A, Bown N, Strain L, Martinsson T, Campbell J, Ashworth A, Swain A

Publication type: Article

Publication status: Published

Journal: Frontiers in Oncology

Year: 2015

Volume: 5

Online publication date: 23/10/2015

Acceptance date: 08/10/2015

ISSN (electronic): 2234-943X

Publisher: Frontiers Research Foundation


DOI: 10.3389/fonc.2015.00236


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