Exome Sequencing of an Adult Pituitary Atypical Teratoid Rhabdoid Tumor.
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ABSTRACT:
SUBMITTER: Biswas S
PROVIDER: S-EPMC4617150 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Exome Sequencing of an Adult Pituitary Atypical Teratoid Rhabdoid Tumor.
Biswas Swethajit S Wood Madeleine M Joshi Abhijit A Bown Nick N Strain Lisa L Martinsson Tommy T Campbell James J Ashworth Alan A Swain Amanda A
Frontiers in oncology 20151023
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 substitu ...[more]
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Project description:Atypical teratoid/rhabdoid tumor (AT/RT) is a rare CNS cancer that typically occurs in children younger than 3 years of age. Histologically, AT/RTs are embryonal tumors that contain a rhabdoid component as well as areas with primitive neuroectodermal, mesenchymal, and epithelial features. Compared to other CNS tumors of childhood, AT/RTs are characterized by their rapid growth, short symptomatic prodrome, and large size upon presentation, often leading to brain compression and intracranial hypertension requiring urgent intervention. For decades, the mainstay of care has been a combination of maximal safe surgical resection followed by adjuvant chemotherapy and radiotherapy. Despite advances in each of these modalities, the relative paucity of data on these tumors, their inherently aggressive course, and a lack of molecular data have limited advances in treatment over the past 3 decades. Recent large-scale, multicenter interdisciplinary studies, however, have significantly advanced our understanding of the molecular pathogenesis of these tumors. Multiple clinical trials testing molecularly targeted therapies are underway, offering hope for patients with AT/RT and their families.
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