title: Diagnostic value of next-generation sequencing in an unusual sphenoid tumor.
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.
authors.affiliation: 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.
authors.forename: Farzad
authors.initials: F
authors.lastname: Jamshidi
authors.affiliation: 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.
authors.forename: Erin
authors.initials: E
authors.lastname: Pleasance
authors.affiliation: 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.
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Li
authors.affiliation: 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.
authors.forename: Yaoqing
authors.initials: Y
authors.lastname: Shen
authors.affiliation: 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.
authors.forename: Katayoon
authors.initials: K
authors.lastname: Kasaian
authors.affiliation: 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.
authors.forename: Richard
authors.initials: R
authors.lastname: Corbett
authors.affiliation: 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.
authors.forename: Peter
authors.initials: P
authors.lastname: Eirew
authors.affiliation: 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.
authors.forename: Amy
authors.initials: A
authors.lastname: Lum
authors.affiliation: 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.
authors.forename: Pawan
authors.initials: P
authors.lastname: Pandoh
authors.affiliation: 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.
authors.forename: Yongjun
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: 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.
authors.forename: Jacqueline E
authors.initials: JE
authors.lastname: Schein
authors.affiliation: 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.
authors.forename: Richard A
authors.initials: RA
authors.lastname: Moore
authors.affiliation: 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.
authors.forename: Rod
authors.initials: R
authors.lastname: Rassekh
authors.affiliation: 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.
authors.forename: David G
authors.initials: DG
authors.lastname: Huntsman
authors.affiliation: 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.
authors.forename: Meg
authors.initials: M
authors.lastname: Knowling
authors.affiliation: 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.
authors.forename: Howard
authors.initials: H
authors.lastname: Lim
authors.affiliation: 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.
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Renouf
authors.affiliation: 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.
authors.forename: Steven J M
authors.initials: SJ
authors.lastname: Jones
authors.affiliation: 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.
authors.forename: Marco A
authors.initials: MA
authors.lastname: Marra
authors.affiliation: 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.
authors.forename: Torsten O
authors.initials: TO
authors.lastname: Nielsen
authors.affiliation: 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.
authors.forename: Janessa
authors.initials: J
authors.lastname: Laskin
authors.affiliation: 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.
authors.forename: Stephen
authors.initials: S
authors.lastname: Yip
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics; D002294:Carcinoma, Squamous Cell / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D020869:Gene Expression Profiling; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D018335:Rhabdoid Tumor / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D000071796:SMARCB1 Protein; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors
keywords: Atypical teratoid/rhabdoid tumor; Next-generation sequencing; Rhabdoid; SMARCB1; Sphenoid