title: Multiple EWSR1-WT1 and WT1-EWSR1 copies in two cases of desmoplastic round cell tumor.
abstract: To provide new insights into the genomic profile of desmoplastic round cell tumors (DSRCT), we applied fluorescence in situ hybridization (FISH) and metaphase comparative genomic hybridization (M-CGH) to two newly diagnosed cases. FISH detected multiple subclones bearing one to three copies of der(11)t(11;22)(p13;q12) and/or der(22)t(11;22)(p13;q12) in both patients. This peculiar genomic imbalance might result from derivative chromosome duplication due to non-disjunction and/or mitotic recombination between normal and derivative chromosomes 11 and 22. Concomitant loss of normal chromosomes (i.e., 11 in patient 1 and 22 in patient 2) caused loss of the WT1 or EWSR1 wild-type allele. M-CGH identified other genomic imbalances: gain at chromosome 3 in both cases and chromosome 5 polysomy in patient 1. Common genomic events (i.e., trisomy 3 and extra EWSR1-WT1 and WT1-EWSR1 copies) probably contributed to disease pathogenesis and/or evolution of DSRCT. Our study demonstrated that an integrated molecular cytogenetic approach identified EWSR1-WT1 cooperating molecular events and genetic markers for prognosis. Thus, FISH and M-CGH might well be applied in a large series of patients to elucidate the genomic background of DSRCT.
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: Gianluca
authors.initials: G
authors.lastname: Barba
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: Oncology Unit, General Hospital, Perugia, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Marcomigni
authors.affiliation: Oncology Unit, General Hospital, Perugia, Italy.
authors.forename: Katia
authors.initials: K
authors.lastname: Perruccio
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Matteucci
authors.affiliation: Department of Genetics and Microbiology, University of Bari, Bari, Italy.
authors.forename: Clelia Tiziana
authors.initials: CT
authors.lastname: Storlazzi
authors.affiliation: Department of Genetics and Microbiology, University of Bari, Bari, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Daniele
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Crescenzi
authors.affiliation: Department of Pathology, University of Perugia, Perugia, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Giansanti
authors.affiliation: Diagnostic Cytology and Histology, Perugia General Hospital, Perugia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Giovenali
authors.affiliation: Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Paola
authors.initials: P
authors.lastname: Dal Cin
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy. Electronic address: cristina.mecucci@unipg.it.
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D000328:Adult; D002148:Calmodulin-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D058405:Desmoplastic Small Round Cell Tumor / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D011379:Prognosis; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D014178:Translocation, Genetic; D025721:WT1 Proteins / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult; D016335:Zinc Fingers
chemical_list: D002148:Calmodulin-Binding Proteins; C500986:EWSR1 protein, human; D015514:Oncogene Proteins, Fusion; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins; D025721:WT1 Proteins
keywords: EWSR1-WT1; FISH; M-CGH