Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12857/115801
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
Nofrini, Valeria
Pierini, Tiziana
Pierini, Valentina
Zin, Angelica 
Bisogno, Gianni 
Cerri, Carla
Caniglia, Maurizio
Sidoni, Angelo
Ludwig, Kathrin
Mecucci, Cristina 
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.
URI: http://hdl.handle.net/20.500.12857/115801
ISSN: 15455009
DOI: 10.1002/pbc.25664
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