title: Molecular Cytogenetics Detect an Unbalanced t(2;13)(q36;q14) and PAX3-FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features.
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.
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Nofrini
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Pierini
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Pierini
authors.affiliation: Institute of Pediatric Research Città della Speranza, University of Padua, Padova, Italy.
authors.forename: Angelica
authors.initials: A
authors.lastname: Zin
authors.affiliation: Pediatric Oncology Hematology-Clinic, University of Padua, Padova, Italy.
authors.forename: Gianni
authors.initials: G
authors.lastname: Bisogno
authors.affiliation: Pediatric Oncology and Hematology, SM della Misericordia Hospital, Perugia, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Cerri
authors.affiliation: Pediatric Oncology and Hematology, SM della Misericordia Hospital, Perugia, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Caniglia
authors.affiliation: Institute of Pathological Anatomy, Medical School, University of Perugia, Perugia, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Sidoni
authors.affiliation: Surgical Pathology and Cytopathology Unit, Department of Medicine (DIMED), University-Hospital of Padova, Padova, Italy.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Ludwig
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D006801:Humans; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D051761:Paired Box Transcription Factors / Q000235:genetics*; D018232:Rhabdomyosarcoma, Alveolar / Q000235:genetics*; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics*; D013736:Testicular Neoplasms / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; C471563:PAX3-FOXO1A fusion protein, human; D051761:Paired Box Transcription Factors
keywords: PAX3-FOXO1; mixed ERMS/ARMS; paratesticular localization