Molecular Cytogenetics Detect an Unbalanced t(2;13)(q36;q14) and PAX3–FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features. Issue 12 (14th July 2015) - La Starza, Roberta
Abstract Distinguishing between alveolar rhabdomyosarcoma (ARMS) and embryonal rhabdomyosarcoma (ERMS) is crucial because treatment and prognosis are different. We describe a case of paratesticular rhabdomyosarcoma (RMS), which was classified as mixed ERMS/ARMS. Fluorescence in situ hybridization (FISH) detected losses of 3′PAX3 and 5′FOXO1, suggesting they had undergone an unbalanced rearrangement that probably produced the PAX3–FOXO1 fusion. Double‐color FISH and reverse transcription‐polymerase chain reaction (RT‐PCR) revealed PAX3–FOXO1, which is characteristic of high‐risk RMS. This finding highlights the importance of supplementing histology with genetics so that atypical RMS is appropriately classified and patients are correctly stratified and treated. Pediatr Blood Cancer 2015;9999:1–4 © 2015 Wiley Periodicals, Inc.