Molecular Cytogenetics Detect an Unbalanced t(2;13)(q36;q14) and PAX3-FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features

La Starza, Roberta; Nofrini, Valeria; Pierini, Tiziana; Pierini, Valentina; Zin, Angelica; Bisogno, Gianni; Cerri, Carla; Caniglia, Maurizio; Sidoni, Angelo; Ludwig, Kathrin; Mecucci, Cristina

doi:10.1002/pbc.25664

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.

Titolo:	Molecular Cytogenetics Detect an Unbalanced t(2;13)(q36;q14) and PAX3-FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features
Autori:	La Starza, Roberta Nofrini, Valeria Pierini, Tiziana Pierini, Valentina ZIN, ANGELICA BISOGNO, GIANNI Cerri, Carla Caniglia, Maurizio Sidoni, Angelo LUDWIG, KATHRIN Mecucci, Cristina mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2015
Rivista:	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.
Handle:	http://hdl.handle.net/11577/3188008
Appare nelle tipologie:	01.01 - Articolo in rivista

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