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CIC rearranged sarcomas: A single institution experience of the potential pitfalls in interpreting CIC FISH results
Stefania Cocchi1, Gabriella Gamberi2, Giovanna Magagnoli1
1Department of Pathology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
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.
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