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Get more from your sarcoma analysis Detect known and novel fusion partners for fast insights with NGS Sarcomas are rare but complex Sarcomas 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 matter Some 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 insights Detecting 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 assay Next-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.

Get more from your sarcoma analysis - Illumina, Inc. · 2018-02-03 · Title: Sarcoma Fusions 101 Flyer Author: Illumina Subject: This flyer provides an overview of sarcomas and methods

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Page 1: Get more from your sarcoma analysis - Illumina, Inc. · 2018-02-03 · Title: Sarcoma Fusions 101 Flyer Author: Illumina Subject: This flyer provides an overview of sarcomas and methods

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.

Page 2: Get more from your sarcoma analysis - Illumina, Inc. · 2018-02-03 · Title: Sarcoma Fusions 101 Flyer Author: Illumina Subject: This flyer provides an overview of sarcomas and methods

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.