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|Title:||Molecular Cytogenetics Detect an Unbalanced t(2;13)(q36;q14) and PAX3-FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features||Authors:||La Starza, Roberta
|Keywords:||PAX3-FOXO1;mixed ERMS/ARMS;paratesticular localization||Keywords Plus:||ALVEOLAR RHABDOMYOSARCOMA;CLASSIFICATION||Mesh headings:||Chromosomes, Human, Pair 13;Chromosomes, Human, Pair 2;Oncogene Proteins, Fusion;Paired Box Transcription Factors;Rhabdomyosarcoma, Alveolar;Rhabdomyosarcoma, Embryonal;Testicular Neoplasms;Translocation, Genetic||Secondary Mesh headings:||Child, Preschool;Humans;Male||Issue Date:||Dec-2015||Publisher:||WILEY||Journal:||Pediatric blood & cancer||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.
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