FOXO1 and PAX5 Rearrangement in Alveolar Rhabdomyosarcoma in Saudi Pediatric Patients

Abstract

Objective: In this study, we investigate the molecular rearrangement of FOXO1 in alveolar rhabdomyosarcoma (ARHS) in Saudi pediatric patients. Method: We performed a molecular detection of molecular translocation in 30 pediatric cases of ARHS using FOXO1 dual color break-apart FISH probe (ZytoLight®, 13q14.11) and PAX5 dual color break-apart FISH probe (ZytoLight®, 9p13.2). Results: All analyzable cases of ARHS demonstrated FOXO1 translocation whereas PAX5 translocation was not detected in any case. Conclusion: Although the testing for PAX5 rearrangement was based on protein–protein network analysis, our study showed that PAX5 translocation is not conspicuous in ARHS. PAX7/3::FOXO1 fusion genes feature ARMS, rendering crossreactivity between PAX7 and PAX3 a possible explanation. Nevertheless, PAX5 immunoreactivity and molecular translocation could be an adjunctive pathway that is confined to aggressive ARMS.

Keywords:

• Alveolar rhabdomyosarcoma
• FOXO1
• PAX5
• FISH analysis

Acknowledgment

The author would like to extend his appreciation to the Researchers Supporting Project number (RSP2022R480) at King Saud University, Riyadh, Saudi Arabia.

Disclosure statement

The authors declare that they have no conflict of interests to report.

Availability of data and material (data transparency)

Virtual slides can be made available upon request.

Code availability

Not applicable.

Author contributions

All authors have contributed equally to this manuscript.

Patient consent

All pathology micrographs provided do not contain any identifying marks and are not accompanied by text that might identify the individual concerned.

Funding

The author(s) reported there is no funding associated with the work featured in this article.