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Abstract
Aims We aimed to evaluate the performances of the Idylla GeneFusion Assay (IGFA) designed to detect, in a single, rapid and fully automated assay, ALK, ROS1, RET, NTRK1, NTRK2 and NTRK3 gene fusions and MET exon 14 skipping in cancer samples.
Methods Based on a set of tumours enriched in cases with gene fusions, we applied the IGFA to tumour areas of various sizes and tumour cell contents. IGFA results were compared with those obtained with other methods (immunohistochemistry, fluorescent in situ hybridisation, DNA and RNA next-generation sequencing).
Results We selected 68 tumours: 49 cases with known gene fusions (8 ALK, 8 ROS1, 5 RET, 7 NTRK1, 3 NTRK2 and 6 NTRK3 ones) or MET exon 14 skipping mutations (12 cases) and 19 cases with no fusion and no MET mutation. We performed 128 IGFA tests on distinct tissue areas. The global sensitivity and specificity of the IGFA were, respectively, 62.82% and 99.2% with variations between molecular targets and tissue areas. Of note, 72.5% sensitivity and 98.79% specificity were obtained in 37 tissue areas fulfilling the manufacturer’s recommendations (ie, at least 10% of tumour cells in at least 20 mm² of tissue area). The rate of non-conclusive results was higher in small samples with low percentages of tumour cells.
Conclusions The IGFA could contribute to the rapid detection of targetable gene fusions and mutations, especially in context of rapidly growing cancers requiring urgent therapeutic choices.
- colorectal neoplasms
- lung neoplasms
- cytogenetics
- polymerase chain reaction
- central nervous system
Data availability statement
All data relevant to the study are included in the article or uploaded as online supplemental information.
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Data availability statement
All data relevant to the study are included in the article or uploaded as online supplemental information.
Footnotes
Handling editor Runjan Chetty.
Contributors Design of the study: AU, MG and PM; Idylla analyses: MG; FISH and IHC analyses: AU; RNAseq analyses: CC, DC and J-PM. Analysis of data, writing, editing and approving the final manuscript: MG, CC, PM, J-PM, DC and AU. Guarantor: AU.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests Biocartis company has provided Idylla dedicated cartridges for this study but has not taken part in data interpretation or manuscript writing in this work. The authors declare no financial or non-financial competing interests in this work.
Provenance and peer review Not commissioned; externally peer reviewed.
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