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)

• Record Type: Journal Article
• Authors: La Starza, Roberta; Nofrini, Valeria; Pierini, Tiziana; Pierini, Valentina; Zin, Angelica; Bisogno, Gianni; Cerri, Carla; Caniglia, Maurizio; Sidoni, Angelo; Ludwig, Kathrin; Mecucci, Cristina
• Is Part Of: Pediatric blood & cancer. Volume 62:Issue 12(2015:Dec.)
• Page Start: 2238
• Page End: 2241
• Publication Date: 2015-07-14
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.25664
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="pbc25664-sec-0001" sec-type="section"> <p>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′<italic>PAX3</italic> and 5′<italic>FOXO1</italic>, suggesting they had undergone an unbalanced rearrangement that probably produced the <italic>PAX3–FOXO1</italic> fusion. Double‐color FISH and reverse transcription‐polymerase chain reaction (RT‐PCR) revealed <italic>PAX3–FOXO1</italic>, 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.</p> </sec> </abstract>