Urinary and Male Reproductive System Tumors


Sarcoma is a broad term for cancers that arise from the soft tissues or bones. Soft tissue sarcomas develop in fat, muscles, nerves, fibrous tissues, blood vessels or deep skin tissues while bone sarcomas originate in bone.

Treatment options vary depending on the size, location and type of tumor. Generally, surgery, radiation therapy, chemotherapy and targeted drug treatment are considered. Despite the effectiveness of traditional therapies, 50% patients develop metastasis and 10-20% experience recurrence. Currently, immunotherapy options rely on immuno-monitoring for prognosis and immuno-profiling subtypes.

Immunotherapy harnesses the body’s natural ability to target disease, but enhancing them to specifically target cancer cells. There are numerous ongoing immunotherapy clinical trials investigating the role of checkpoint receptors such as PD-1/PD-L1 and CTLA-4 as predictive biomarkers in sarcoma. Adoptive cell therapy trials, whereby tumor infiltration lymphocytes (TILs) attack primary cancer cells are also underway for advanced sarcoma patients.

Current approved targeted therapies for sarcomas include cell cycle inhibitors (CDKIs) and tyrosine kinase inhibitors (TKIs). Molecular-targeted therapy have significantly improved prognosis for certain sarcomas (ie. GISTs), which are intrinsically resistant to chemotherapy and radiation.


Targets 506 key genes in soft tissue and bone tumors

Sarcopact™ employs DNA targeted sequencing to detect single nucleotide variants (SNVs), small insertions and deletions (indels), copy number variations (CNVs), and selected gene fusions to characterize sarcoma subtypes; it also assesses key biomarkers including tumour mutation burden (TMB), micro satellite instability (MSI), and DNA mismatch repair (MMR) genes to guide immunotherapy decision

  • Coverage of prognosis-related genes to inform treatment decision making
  • Coverage of sarcoma-related, and clinically actionable gene alterations to guide targeted therapy
  • Timely assessment of drug resistance and associated mechanism(s) through liquid biopsy to direct treatment strategy
  • Hereditary cancer risk assessment for early intervention 
  • Sarcoma patients seeking precision medicine
  • Patients with unresectable or metastatic sarcomas
  • Sarcoma patients with recurrent disease 
  • Patients with an early onset or family history of sarcomas
Icon Tumour Tissue

Tumor tissue (FFPE block/slides, or frozen tissue)

Icon Fine Needle Biopsy

Fine needle biopsy

Icon Liquid Biopsy

Liquid biopsy (plasma and others)


Targets 201 fusion genes in soft tissue and bone tumors

Gene fusions are involved in up to 30% of sarcomas, arising from chromosomal rearrangements leading to translocations, insertions, inversions, or interstitial deletions.

Conventional IHC, FISH and other methods however, cannot accurately locate gene fusions, as some exist in introns. Thus, DNA-level detection alone does not suffice as a comprehensive method of detection. Similarly, traditional RNA-Seq has insufficient sensitivity and low resolution while requiring higher quality samples, making it difficult to detect low-abundant fusion genes.

Sarcorna™ uses targeted RNA sequencing technology to comprehensively detect gene fusions in sarcoma with increased sensitivity and dynamic range compared to whole transcriptome RNAseq.


Recommended use: in conjunction with Sarcopact™

  • Patients with soft tissue and bone tumors requiring definitive diagnosis
  • Patients with soft tissue and bone tumors seeking targeted therapy
  • Patients with soft tissue and bone tumors who tested negative by conventional methods or by DNA alone
Icon Tumour Tissue

Tumor tissue (FFPE block/slides, or frozen tissue)

Icon Fine Needle Biopsy

Fine needle biopsy


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