PMID- 19775727
OWN - NLM
STAT- MEDLINE
DCOM- 20100315
LR  - 20220419
IS  - 1532-8392 (Electronic)
IS  - 0046-8177 (Linking)
VI  - 41
IP  - 3
DP  - 2010 Mar
TI  - Fluorescence in situ hybridization analysis of extraskeletal myxoid 
      chondrosarcomas using EWSR1 and NR4A3 probes.
PG  - 336-42
LID - 10.1016/j.humpath.2009.04.028 [doi]
AB  - Extraskeletal myxoid chondrosarcomas (EMCs) are characterized histologically by a 
      cord-like or lace-like arrangement of small round cells or short spindle cells 
      with eosinophilic cytoplasm distributed in a rich myxoid matrix. Atypical cases 
      of EMC have also been described, with areas of poor mucus production and high 
      cellularity and a transition to typical EMC. Most cases of EMC harbor the 
      chromosomal reciprocal translocation t(9;22) (q22;q12) and the resultant fused 
      gene, Ewing sarcoma region 1-nuclear receptor subfamily 4, group A, member 3 
      (EWSR1-NR4A3). Other translocations, such as those involving the NR4A3 gene, have 
      also been noted, although these occur at a lower frequency. On this basis, we 
      conducted a fluorescence in situ hybridization (FISH) analysis of 18 cases of EMC 
      in which patients presented with typical or atypical (areas of high cellularity) 
      histologic features of EMC. We used an EWSR1 probe and a newly prepared NR4A3 
      probe to evaluate the usefulness of FISH in the pathologic diagnosis of EMC. FISH 
      analysis using the EWSR1 or NR4A3 probe showed split signals in 83% (15/18) of 
      the cases, regardless of the presence of typical/atypical histologic features. 
      Gene rearrangement of EWSR1 was noted in 72% (13/18) of the cases, and 
      rearrangement of NR4A3 was noted in 61% (11/18) of the cases. The NR4A3 
      rearrangement was detected in 2 cases not carrying any EWSR1 rearrangement, as 
      determined by reverse transcription-polymerase chain reaction. These results 
      suggest that FISH analysis of formalin-fixed, paraffin-embedded specimens using 
      EWSR1 and NR4A3 probes is useful and convenient and may provide an ancillary 
      method for the diagnosis of EMC.
CI  - Copyright 2010 Elsevier Inc. All rights reserved.
FAU - Noguchi, Hiroko
AU  - Noguchi H
AD  - Department of Surgical Pathology, Sapporo Medical University School of Medicine, 
      Sapporo 060-8543, Japan.
FAU - Mitsuhashi, Tomoko
AU  - Mitsuhashi T
FAU - Seki, Kunihiko
AU  - Seki K
FAU - Tochigi, Naofumi
AU  - Tochigi N
FAU - Tsuji, Masahisa
AU  - Tsuji M
FAU - Shimoda, Tadakazu
AU  - Shimoda T
FAU - Hasegawa, Tadashi
AU  - Hasegawa T
LA  - eng
PT  - Journal Article
DEP - 20090922
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
RN  - 0 (Calmodulin-Binding Proteins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (NR4A3 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (RNA-Binding Proteins)
RN  - 0 (Receptors, Steroid)
RN  - 0 (Receptors, Thyroid Hormone)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Calmodulin-Binding Proteins/*genetics
MH  - Chondrosarcoma/diagnosis/*genetics
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Neoplasm Proteins/genetics
MH  - Oncogene Fusion/genetics
MH  - Oncogene Proteins, Fusion/genetics
MH  - RNA-Binding Protein EWS
MH  - RNA-Binding Proteins/*genetics
MH  - Receptors, Steroid/*genetics
MH  - Receptors, Thyroid Hormone/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Soft Tissue Neoplasms/diagnosis/*genetics
EDAT- 2009/09/25 06:00
MHDA- 2010/03/17 06:00
CRDT- 2009/09/25 06:00
PHST- 2009/02/02 00:00 [received]
PHST- 2009/03/30 00:00 [revised]
PHST- 2009/04/02 00:00 [accepted]
PHST- 2009/09/25 06:00 [entrez]
PHST- 2009/09/25 06:00 [pubmed]
PHST- 2010/03/17 06:00 [medline]
AID - S0046-8177(09)00303-7 [pii]
AID - 10.1016/j.humpath.2009.04.028 [doi]
PST - ppublish
SO  - Hum Pathol. 2010 Mar;41(3):336-42. doi: 10.1016/j.humpath.2009.04.028. Epub 2009 
      Sep 22.