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Oncologist. 2014 Jun;19(6):623-30. doi: 10.1634/theoncologist.2013-0390. Epub 2014 May 7.

Diagnostic value of next-generation sequencing in an unusual sphenoid tumor.

Author information

1
Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada; Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada; British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada; Division of Oncology/Hematology/BMT, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada; Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada; Department of Medical Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
2
Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada; Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada; British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada; Division of Oncology/Hematology/BMT, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada; Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada; Department of Medical Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada syip@bccancer.bc.ca.

Abstract

Extraordinary advancements in sequencing technology have made what was once a decade-long multi-institutional endeavor into a methodology with the potential for practical use in a clinical setting. We therefore set out to examine the clinical value of next-generation sequencing by enrolling patients with incurable or ambiguous tumors into the Personalized OncoGenomics initiative at the British Columbia Cancer Agency whereby whole genome and transcriptome analyses of tumor/normal tissue pairs are completed with the ultimate goal of directing therapeutics. First, we established that the sequencing, analysis, and communication with oncologists could be completed in less than 5 weeks. Second, we found that cancer diagnostics is an area that can greatly benefit from the comprehensiveness of a whole genome analysis. Here, we present a scenario in which a metastasized sphenoid mass, which was initially thought of as an undifferentiated squamous cell carcinoma, was rediagnosed as an SMARCB1-negative rhabdoid tumor based on the newly acquired finding of homozygous SMARCB1 deletion. The new diagnosis led to a change in chemotherapy and a complete nodal response in the patient. This study also provides additional insight into the mutational landscape of an adult SMARCB1-negative tumor that has not been explored at a whole genome and transcriptome level.

KEYWORDS:

Atypical teratoid/rhabdoid tumor; Next-generation sequencing; Rhabdoid; SMARCB1; Sphenoid

PMID:
24807916
PMCID:
PMC4041668
DOI:
10.1634/theoncologist.2013-0390
[Indexed for MEDLINE]
Free PMC Article
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