POG098
2016/09/22
Ewing's Sarcoma
BC Cancer Agency | Canada's Michael Smith Genome Sciences Centre
Tumour Genome Analysis
Whole genome; Transcriptome; Somatic
Report version: 3.0.1
Knowledgebase version: 2.2.12
POG098
PATIENT INFORMATION
Patient ID:
POG098
Gender:
Female
Tumour Sample:
Recurrent-Relapse
Tumour Type:
Ewing's Sarcoma
Case Type:
Adult
Constitutional Sample:
Peripheral Blood
Report Date:
2016/09/22
Age at Diagnosis:
Not specified
Biopsy Details:
spinal mass
Physician:
Dr.Knowling
Protocol:
RNA-seq; WGS
PATIENT TUMOUR ANALYSIS SUMMARY
GENOME STATUS
Tumour Content Ploidy Model
54% diploid
For description of method see APPENDIX
TISSUE COMPARATORS
Normal Expression Disease Expression
compendium average SARC
Details in EXPRESSION ANALYSIS section
SUBTYPING
Subtype
Not specified
Details in EXPRESSION ANALYSIS section
MICROBIAL CONTENT
Subtype Integration
None None
Details in MICROBIAL CONTENT section
MUTATION SIGNATURE
Not specified
Interpreted prevalence:
Percentile among compendium:
Percentile among SARC:
MUTATION BURDEN (in protein coding genes)
Single nucleotide variants (SNVs): 47 Insertions and deletions (Indels): 12 Structural variants (SVs): 33
MODERATE HIGH MODERATE
52 89 29 (POG)
na na
Details in SMALL SOMATIC MUTATIONS section Details in STRUCTURAL VARIATION section
KEY GENOMIC AND TRANSCRIPTOMIC ALTERATIONS IDENTIFIED
Small Mutations:
0
Copy Number Variants:
1
Structural Variants:
1
Expression Outliers:
7
APC (copy loss) EWSR1::FLI1 (e7:e4) CCNA2 (increased expression) CES2 (increased expression)
MYC(increased expression) PTEN (reduced expression) SKP2 (increased expression) TOP2A (increased expression)
TP53 (increased expression)
Additional variants of uncertain significance (VUS) detected in cancer-related genes:
6
Details in DETAILED GENOMIC ANALYSIS section
GENOMIC EVENTS WITH POTENTIAL THERAPEUTIC ASSOCIATION
Genomic Event Approved in this cancer type Approved in other cancer type Emerging evidence
CCNA2 (increased expression) resistance
CES2 (increased expression) sensitivity
MYC (increased expression) sensitivity
PTEN (increased expression) resistance; sensitivity
SKP2 (increased expression) sensitivity
For details on potential therapeutic options with links to the evidence source material, see the DETAILED GENOMIC ANALYSIS section.