title: Exome Sequencing of an Adult Pituitary Atypical Teratoid Rhabdoid Tumor.
abstract: 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.
authors.affiliation: Northern Institute for Cancer Research (NICR), Newcastle University Medical School , Newcastle-upon-Tyne , UK ; Northern Centre for Cancer Care (NCCC), Freeman Hospital, Newcastle University Teaching Hospitals NHS Foundation Trust , Newcastle-upon-Tyne , UK.
authors.forename: Swethajit
authors.initials: S
authors.lastname: Biswas
authors.affiliation: Northern Centre for Cancer Care (NCCC), Freeman Hospital, Newcastle University Teaching Hospitals NHS Foundation Trust , Newcastle-upon-Tyne , UK.
authors.forename: Madeleine
authors.initials: M
authors.lastname: Wood
authors.affiliation: Department of Neuropathology, Royal Victoria Infirmary (RVI), Newcastle University Teaching Hospitals NHS Foundation Trust , Newcastle-upon-Tyne , UK.
authors.forename: Abhijit
authors.initials: A
authors.lastname: Joshi
authors.affiliation: International Centre for Life, Institute of Human Genetics, Newcastle University , Newcastle-upon-Tyne , UK.
authors.forename: Nick
authors.initials: N
authors.lastname: Bown
authors.affiliation: International Centre for Life, Institute of Human Genetics, Newcastle University , Newcastle-upon-Tyne , UK.
authors.forename: Lisa
authors.initials: L
authors.lastname: Strain
authors.affiliation: Department of Medical Genetics, University of Gothenburg , Gothenburg , Sweden.
authors.forename: Tommy
authors.initials: T
authors.lastname: Martinsson
authors.affiliation: Institute of Cancer Research (ICR) , London , UK.
authors.forename: James
authors.initials: J
authors.lastname: Campbell
authors.affiliation: Institute of Cancer Research (ICR) , London , UK.
authors.forename: Alan
authors.initials: A
authors.lastname: Ashworth
authors.affiliation: Institute of Cancer Research (ICR) , London , UK.
authors.forename: Amanda
authors.initials: A
authors.lastname: Swain
keywords: SMARCB1; adult; atypical teratoid rhabdoid tumor; copy number variation; exome sequencing; trisomy 8