Title |
Exome Sequencing of an Adult Pituitary Atypical Teratoid Rhabdoid Tumor
|
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Published in |
Frontiers in oncology, October 2015
|
DOI | 10.3389/fonc.2015.00236 |
Pubmed ID | |
Authors |
Swethajit Biswas, Madeleine Wood, Abhijit Joshi, Nick Bown, Lisa Strain, Tommy Martinsson, James Campbell, Alan Ashworth, Amanda Swain |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Switzerland | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 20 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Doctoral Student | 3 | 15% |
Student > Bachelor | 3 | 15% |
Student > Ph. D. Student | 3 | 15% |
Student > Master | 2 | 10% |
Researcher | 2 | 10% |
Other | 3 | 15% |
Unknown | 4 | 20% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 8 | 40% |
Biochemistry, Genetics and Molecular Biology | 3 | 15% |
Nursing and Health Professions | 1 | 5% |
Social Sciences | 1 | 5% |
Computer Science | 1 | 5% |
Other | 0 | 0% |
Unknown | 6 | 30% |