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Molecular Cytogenetics Detect an Unbalanced t(2;13)(q36;q14) and PAX3 –FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features
Author(s) -
La Starza Roberta,
Nofrini Valeria,
Pierini Tiziana,
Pierini Valentina,
Zin Angelica,
Bisogno Gianni,
Cerri Carla,
Caniglia Maurizio,
Sidoni Angelo,
Ludwig Kathrin,
Mecucci Cristina
Publication year - 2015
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25664
Subject(s) - pax3 , alveolar rhabdomyosarcoma , rhabdomyosarcoma , embryonal rhabdomyosarcoma , medicine , fusion gene , fluorescence in situ hybridization , reverse transcription polymerase chain reaction , cytogenetics , cancer research , pathology , biology , transcription factor , gene , sarcoma , genetics , messenger rna , chromosome
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.