Detection of an Atypical Teratoid Rhabdoid Brain Tumor Gene Deletion in Circulating Blood Using Next-Generation Sequencing

Circulating biomarkers such as somatic chromosome mutations are novel diagnostic tools to detect cancer noninvasively. We describe focal deletions found in a patient with atypical teratoid rhabdoid tumor, a highly aggressive early childhood pediatric tumor. First, we used magnetic resonance imaging...

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Bibliographic Details
Published in:Journal of child neurology 2014-09, Vol.29 (9), p.NP81-NP85
Main Authors: Chakravadhanula, Madhavi, Tembe, Waibhav, Legendre, Christophe, Carpentieri, David, Liang, Winnie S., Bussey, Kimberly J., Carpten, John, Berens, Michael E., Bhardwaj, Ratan D.
Format: Article
Language:English
Subjects:
Biomarkers - blood
Brain - pathology
Brain - surgery
Brain Neoplasms - blood
Brain Neoplasms - genetics
Brain Neoplasms - pathology
Brain Neoplasms - surgery
Chromosomal Proteins, Non-Histone - genetics
DNA Mutational Analysis - methods
DNA-Binding Proteins - genetics
Gene Deletion
Humans
Magnetic Resonance Imaging
Rhabdoid Tumor - blood
Rhabdoid Tumor - genetics
Rhabdoid Tumor - pathology
Rhabdoid Tumor - surgery
SMARCB1 Protein
Transcription Factors - genetics
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Summary:Circulating biomarkers such as somatic chromosome mutations are novel diagnostic tools to detect cancer noninvasively. We describe focal deletions found in a patient with atypical teratoid rhabdoid tumor, a highly aggressive early childhood pediatric tumor. First, we used magnetic resonance imaging (MRI) and histopathology to study the tumor anatomy. Next, we used whole genome sequencing (Next Gen Sequencing) and Bioinformatics interrogation to discover the presence of 3 focal deletions in tumor tissue and 2 of these 3 focal deletions in patient’s blood also. About 20% of the blood DNA sequencing reads matched the tumor DNA reads at the SMARCB1 gene locus. Circulating, tumor-specific DNA aberrations are a promising biomarker for atypical teratoid rhabdoid tumor patients. The high percentage of tumor DNA detected in blood indicates that either circulating brain tumor cells lyse in the blood or that contents of brain tumor cells traverse a possibly compromised blood-brain barrier in this patient.
ISSN:0883-0738
1708-8283
DOI:10.1177/0883073813503904