get more from your sarcoma analysis · taylor bs, barretina j, maki rg, antonescu cr, singer s,...
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Get more from your sarcoma analysisDetect known and novel fusion partners for fast insights with NGS
Sarcomas are rare but complexSarcomas are cancers found in connective tissues such as bone and soft tissues. While rare—with more than 15,000 new diagnoses each year in the US—27% are found in children and young adults under age 30.1,2
~1/3 of sarcomas are caused by chromosomal translocations that lead to gene fusions.3,4
Gene fusion
Translocation
Gene fusion partners matterSome genes, such as EWSR1, are particularly associated with sarcomas and have multiple fusion partners. These varied fusion partnerships result in different sarcoma subtypes.5
DDIT3
ERG
FLI1
ETV1
E1AF
FEV
ATF1
WT1
ZSG
TEC
NMP4
EWSR1
Myxoid Liposarcoma
Ewing's Sarcoma
Clear Cell Sarcoma
Desmoplastic Small Cell Tumor
Askin Like CD99 Negative Sarcoma
Extraskeletal Myxoid Chondrosarcoma
Acute Lymphatic Leukemia
Sarcomas include more than 50 subtypes based on the cell of origin.6
Accurate subtype identification is essential for implementing insightsDetecting sarcoma subtypes is more complicated than identifying the cell of origin, but conventional molecular analysis methods can have limitations.
Fluorescence in situ hybridization (FISH) • Usually interrogates only one pair of genes• Translocations of one gene can occur with multiple fusion partners, resulting in incorrect sarcoma subtype identification
Reverse transcription polymerase chain reaction (RT-PCR) • Requires knowledge of both partners and anticipated break points
TruSight™ RNA Fusion Panel: Comprehensive coverage in a single assayNext-generation sequencing (NGS) covers hundreds of fusion-associated genes—and can detect novel fusions—so you can identify chromosomal abnormalities in the first try.
For Research Use Only. Not for use in diagnostic procedures.
For Research Use Only. Not for use in diagnostic procedures.© 2017 Illumina, Inc. All rights reserved. Pub. No. 1170-2017-011
The TruSight RNA Fusion PanelKnown and novel fusions. Fast and accurate insights.
TruSight RNA Fusion Panel covers a broad range of fusion-associated genes
>500Fusion-associated genes previously found in sarcomas4
142 Fusionswithout prior knowledge of speci�c translocations or chromosomal breakpoints
NovelFusion
Detection
Identify fusions associated with common sarcomas
Round cell tumors Spindle cell tumors
PAX7
PAX3
NCOA1
FOX04
TFE3
NR4A3
PATZ1
FLI1
ATF1
ERGFEV
ETV1
ETV4
WT1
DDIT3
CREB3L1
CREB3L2
ETV6
NTRK3
SSX4
SSX2
SSX1
SS18L1
COL1A1
PDGFB
SEC31A
CLTCATIC
CARS
TPM3RANBP2
TPM4
TFG
TAF15
TCF12
ASPSCR1
Ewing’s Sarcoma Alveolar Rhabdomyosarcoma Synovial Sarcoma Myxoid Liposarcoma Other subtypes
FOX01
EWSR1
FUS
SS18
ALK
The TruSight RNA Fusion Panel provides a reproducible and economical solution7 for identifying gene fusions in sarcomas.
Learn MoreFor more information about the TruSight RNA Fusion Panel, visit illumina.com/RNAFusion.
References1. Estimated New Cases, 2017. American Cancer Society. https://cancerstatisticscenter.cancer.org/#/data-analysis/module/BmVYeqHT?type=barGraph. Accessed June 23, 2017. 2. SEER Cancer Statistics Review 1975-2004: Table I-10, Age Distribution at Diagnosis and Death. National Cancer Institute Surveillance, Epidemiology, and End Results Program.
https://seer.cancer.gov/archive/csr/1975_2004/results_merged/topic_age_dist.pdf. Accessed July 17, 2017. 3. Taylor BS, Barretina J, Maki RG, Antonescu CR, Singer S, Ladanyi M. Advances in sarcoma genomics and new therapeutic targets. Nat Rev Cancer. 2011;11(8):541-557. 4. Mertens F, Antonescu CR, Mitelman F, et al. Gene fusions in soft tissue tumors: Recurrent and overlapping pathogenetic themes. Genes Chromosomes Cancer. 2016;55(4):291-310. 5. Åman P. Fusion Oncogenes in tumor development. Semin Cancer Biol. 2005;15(3):236-243.6. What is a soft tissue sarcoma? American Cancer Society. https://www.cancer.org/cancer/soft-tissue-sarcoma/about/soft-tissue-sarcoma.html. Accessed June 23, 2017. 7. Data calculations on file. Illumina, Inc. 2017.