Diatech Pharmacogenetics is pleased to announce the release of its CE-IVD RealQuant® Lung Fusion Genes kit for the detection and quantification through NanoString® technology of the fusion transcripts of the genes ALK, ROS1 and RET in non-small cell lung cancer (NSCLS).
Lung cancer is the first tumor in terms of incidence and mortality among men and it represents the third one in incidence, the second one in mortality, among women.
The NSCLC represents the 85% of all lung cancer cases. In a small fraction of NSCLC cases ranging from 1% to 7% it has been observed some chromosomal translocations which involve ALK, ROS1 or RET genes conferring sensitivity to the therapy with specific tyrosine-kinase inhibitors (TKIs). Crizotinib (Xalkori) is indicated for the treatment of patients with NSCLC in advanced stage and positive for fusion of ALK or ROS1 genes on the front line or after chemotherapy treatment. Ceritinib (Zykadia), initially approved only for treatment of advanced stage NSCLC and positive ALK patients, also resistant and intolerant to crizotinib, it has recently been authorized by FDA to be used also on the front line.
Alectinib (Alecensa) has been approved by EMA two months ago for the treatment of patients with advanced stage NSCLC and ALK translocation, whose disease progresses during or shortly after the therapy with Crizotinib. Other TKIs, such as Vandetanib and Cabozantinib, are in an advanced clinical trial phase for the treatment of NSCLS positive for RET rearrangements.
The RealQuant® Lung Fusion Genes kit allows to detect by 45 molecular probes, in a single multiplex reaction, known and unknown fusion variants of ALK, ROS1 and RET starting from RNA extracted from fresh, frozen or paraffin tissue, or from cytological samples. In the same multiplex are included further 27 assays and related probes: 21 for reference genes necessary for data normalization and 6 for genes differentially expressed in normal and tumor lung tissue, useful for the evaluation of RNA quality and quantity and for neoplastic cell content.
In less than two days it is possible to move from the biological sample to standardized results and readily usable for the report, thanks to a dedicated software for NanoString® (RealQuant® Data Analysis Software) data analysis, that, among the other functions, performs the quality control and the evaluation of the analytical and pre-analytical steps.
The RealQuant® Lung Fusion Genes performances have been evaluated during a multicenter clinical study (LEONID1) in comparison with FISH, IHC and Real Time PCR. The concordance with the others methodologies was greater than 97%. The NanoString® technology, based on the hybridization of molecular probes (fluorescents barcode), allow the detection and quantification of a very high number of different target sequences (up to 800 in the same multiplex reaction), with only 4 pipetting steps and 15 minutes of “hand on-time”, reaching exceptional performances even on samples with low quantity and quality.
The innovative 3D Biology™ version of NanoString® technology also provides a multi-functional approach for the analysis of RNA, DNA (SNP, indel, CNV) and proteins in the same reaction tube.
The validation was performed in a clinical study in collaboration with the Surgical, Medical, Molecular and Critical Areas department, University of Pisa – Pisana (Pisa) University Hospital, and with the Level III Biosciences, Molecular Diagnostic laboratory – Biomarkers and personalized medicine, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (I.R.S.T.) IRCCS (Meldola).