Aim: The aim of this study was to establish how reliable FISH CIC analysis using an IVD (in vitro diagnostic) commercial probe is. Methods and results: A series of 19 CIC-DUX4 sarcomas were evaluated. The samples presenting CIC-DUX4 fusion transcript detected by Reverse Transcription-Polymerase Chain Reaction (RT-PCR) and Sanger sequencing and/ or Next Generation Sequencing were selected for Fluorescent in Situ Hybridization (FISH) CIC analysis with CIC break-apart IVD probe and compared to molecular analysis. CIC FISH analysis showed 26% of false negatives. Conclusion: Our results indicate that, in the setting of CIC-DUX4 fusion positive small round cell sarcomas, CIC FISH using IVD commercial probe may lead to false-negative results. This novel study evaluates the diagnostic use of a commercial IVD CIC probe for FISH
Cocchi, S., Gamberi, G., Magagnoli, G., Maioli, M., Righi, A., Frisoni, T., et al. (2022). CIC rearranged sarcomas: A single institution experience of the potential pitfalls in interpreting CIC FISH results. PATHOLOGY RESEARCH AND PRACTICE, 231, 1-7 [10.1016/j.prp.2022.153773].
CIC rearranged sarcomas: A single institution experience of the potential pitfalls in interpreting CIC FISH results
Cocchi, Stefania
;Gamberi, Gabriella;Frisoni, Tommaso;
2022
Abstract
Aim: The aim of this study was to establish how reliable FISH CIC analysis using an IVD (in vitro diagnostic) commercial probe is. Methods and results: A series of 19 CIC-DUX4 sarcomas were evaluated. The samples presenting CIC-DUX4 fusion transcript detected by Reverse Transcription-Polymerase Chain Reaction (RT-PCR) and Sanger sequencing and/ or Next Generation Sequencing were selected for Fluorescent in Situ Hybridization (FISH) CIC analysis with CIC break-apart IVD probe and compared to molecular analysis. CIC FISH analysis showed 26% of false negatives. Conclusion: Our results indicate that, in the setting of CIC-DUX4 fusion positive small round cell sarcomas, CIC FISH using IVD commercial probe may lead to false-negative results. This novel study evaluates the diagnostic use of a commercial IVD CIC probe for FISHI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
