PMID- 24388397
OWN - NLM
STAT- MEDLINE
DCOM- 20140609
LR  - 20171116
IS  - 2210-7762 (Print)
VI  - 206
IP  - 11
DP  - 2013 Nov
TI  - Multiple EWSR1-WT1 and WT1-EWSR1 copies in two cases of desmoplastic round cell 
      tumor.
PG  - 387-92
LID - S2210-7762(13)00144-0 [pii]
LID - 10.1016/j.cancergen.2013.10.005 [doi]
AB  - 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.
CI  - Copyright (c) 2013 Elsevier Inc. All rights reserved.
FAU - La Starza, Roberta
AU  - La Starza R
AD  - Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, 
      Italy.
FAU - Barba, Gianluca
AU  - Barba G
AD  - Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, 
      Italy.
FAU - Nofrini, Valeria
AU  - Nofrini V
AD  - Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, 
      Italy.
FAU - Pierini, Tiziana
AU  - Pierini T
AD  - Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, 
      Italy.
FAU - Pierini, Valentina
AU  - Pierini V
AD  - Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, 
      Italy.
FAU - Marcomigni, Luca
AU  - Marcomigni L
AD  - Oncology Unit, General Hospital, Perugia, Italy.
FAU - Perruccio, Katia
AU  - Perruccio K
AD  - Oncology Unit, General Hospital, Perugia, Italy.
FAU - Matteucci, Caterina
AU  - Matteucci C
AD  - Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, 
      Italy.
FAU - Storlazzi, Clelia Tiziana
AU  - Storlazzi CT
AD  - Department of Genetics and Microbiology, University of Bari, Bari, Italy.
FAU - Daniele, Giulia
AU  - Daniele G
AD  - Department of Genetics and Microbiology, University of Bari, Bari, Italy.
FAU - Crescenzi, Barbara
AU  - Crescenzi B
AD  - Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, 
      Italy.
FAU - Giansanti, Michele
AU  - Giansanti M
AD  - Department of Pathology, University of Perugia, Perugia, Italy.
FAU - Giovenali, Paolo
AU  - Giovenali P
AD  - Diagnostic Cytology and Histology, Perugia General Hospital, Perugia, Italy.
FAU - Dal Cin, Paola
AU  - Dal Cin P
AD  - Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, 
      Boston, Massachusetts.
FAU - Mecucci, Cristina
AU  - Mecucci C
AD  - Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, 
      Italy. Electronic address: cristina.mecucci@unipg.it.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20131104
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (Calmodulin-Binding Proteins)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (RNA-Binding Proteins)
RN  - 0 (WT1 Proteins)
SB  - IM
MH  - Adult
MH  - Calmodulin-Binding Proteins/*genetics/metabolism
MH  - Desmoplastic Small Round Cell Tumor/diagnosis/*genetics/metabolism/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Oncogene Proteins, Fusion/*genetics/metabolism
MH  - Prognosis
MH  - RNA-Binding Protein EWS
MH  - RNA-Binding Proteins/*genetics/metabolism
MH  - Translocation, Genetic
MH  - WT1 Proteins/*genetics/metabolism
MH  - Young Adult
MH  - Zinc Fingers
OTO - NOTNLM
OT  - EWSR1-WT1
OT  - FISH
OT  - M-CGH
EDAT- 2014/01/07 06:00
MHDA- 2014/06/10 06:00
CRDT- 2014/01/07 06:00
PHST- 2013/07/23 00:00 [received]
PHST- 2013/10/23 00:00 [revised]
PHST- 2013/10/30 00:00 [accepted]
PHST- 2014/01/07 06:00 [entrez]
PHST- 2014/01/07 06:00 [pubmed]
PHST- 2014/06/10 06:00 [medline]
AID - S2210-7762(13)00144-0 [pii]
AID - 10.1016/j.cancergen.2013.10.005 [doi]
PST - ppublish
SO  - Cancer Genet. 2013 Nov;206(11):387-92. doi: 10.1016/j.cancergen.2013.10.005. Epub 
      2013 Nov 4.