Sarcoma diagnostic in a single reaction

The SarcomaFusion test detects fusion transcripts in sarcomas. These transcripts, associated with specific subtypes and targeted treatments, are crucial for patient care. Using patented ligation-dependent PCR technology, the test simplifies diagnostics and enhances our understanding of sarcoma biology. Its rapid protocol and robustness make it a valuable tool in oncology. 

 

Fusion transcripts are frequently observed in around 1/3 of soft tissue tumours, and the scientific literature describes more than 140 different fusions.

These fusions are often associated with specific histological subtypes and targeted therapies, making them extremely useful molecular diagnostic markers.

Accurate detection of these fusion transcripts is of vital importance for optimal management of patients with sarcomas.

In this context, the SarcomaFusion test, developed by Genexpath, offers a cost-effective and efficient solution for detecting the fusion transcripts responsible for these sarcomas. Using this approach, sarcoma-specific fusion transcripts can be detected and assessed in a single comprehensive analysis, simplifying the diagnostic process and providing a better understanding of the molecular nature of sarcomatous tumours.

 

 

 

 

 

The GENEXPATH SarcomaFusion test is based on a ligation-dependent RT-PCR method (LD-RTPCR). This semi-quantitative technique can be used to simultaneously assess the expression levels of a large number of genetic markers and, more specifically for this test, chromosomal translocations using pairs of oligonucleotide probes specific for each of these markers.

 

A quick and simple protocol 

 

From a total RNA extract, four steps are sufficient to obtain the libraries. A reverse transcription step. An oligonucleotide probe hybridisation step. A ligation step. A PCR amplification step, followed by sequencing of the libraries. No prior purification required, limiting material loss and ensuring high sensitivity. Probes targeting short genetic sequences (40-60 bases), offering robustness against RNA degradation. Suitable for difficult samples such as paraffin-embedded tissue biopsies. Only around 105 sequences required per sample to obtain an analysable expression profile. GENEXPATH SarcomaFusion libraries can be loaded with other sequencing libraries to optimise costs.