PMID- 25130955
OWN - NLM
STAT- MEDLINE
DCOM- 20150106
LR  - 20140913
IS  - 2210-7762 (Print)
VI  - 207
IP  - 6
DP  - 2014 Jun
TI  - Extraskeletal myxoid chondrosarcoma with a t(9;16)(q22;p11.2) resulting in a 
      NR4A3-FUS fusion.
PG  - 276-80
LID - S2210-7762(14)00138-0 [pii]
LID - 10.1016/j.cancergen.2014.06.024 [doi]
AB  - Extraskeletal myxoid chondrosarcoma (EMC) is a rare neoplasm characterized by 
      rearrangement of NR4A3. A t(9;22)(q22;q12), creating a fusion protein of EWSR1 
      and NR4A3, has been reported as a unique, recurring translocation in most cases. 
      Reported variant translocations have resulted in fusion of NR4A3 with three other 
      genes: TAF15, TCF12, and TFG. We report a case of EMC in a 59-year-old man who 
      presented with a 6-month history of an enlarging mass in the proximal right 
      thigh. The karyotype of fresh tissue from tumor taken at incisional biopsy 
      revealed a t(9;16)(q22;p11.2). There was no evidence of an EWSR1 rearrangement by 
      dual-color break-apart fluorescence in situ hybridization (FISH). Dual-color FISH 
      probes revealed fusion of NR4A3 and FUS, a member of the TET family of genes, 
      which includes EWSR1 and TAF15. Break-apart FISH probe results confirmed 
      rearrangement of FUS. These findings show that a fusion product of FUS and NR4A3 
      may be an additional pathway to development of EMC.
CI  - Copyright (c) 2014 Elsevier Inc. All rights reserved.
FAU - Broehm, Cory J
AU  - Broehm CJ
AD  - Department of Pathology, University of New Mexico School of Medicine, 
      Albuquerque, NM, USA. Electronic address: cbroehm@salud.unm.edu.
FAU - Wu, Jin
AU  - Wu J
AD  - Department of Pathology, University of New Mexico School of Medicine, 
      Albuquerque, NM, USA.
FAU - Gullapalli, Rama R
AU  - Gullapalli RR
AD  - Department of Pathology, University of New Mexico School of Medicine, 
      Albuquerque, NM, USA.
FAU - Bocklage, Therese
AU  - Bocklage T
AD  - Department of Pathology, University of New Mexico School of Medicine, 
      Albuquerque, NM, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140626
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (NR4A3 protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA-Binding Protein FUS)
RN  - 0 (Receptors, Steroid)
RN  - 0 (Receptors, Thyroid Hormone)
RN  - Chondrosarcoma, Extraskeletal Myxoid
SB  - IM
MH  - Chondrosarcoma/*genetics/pathology
MH  - Chromosomes, Human, Pair 16
MH  - Chromosomes, Human, Pair 9
MH  - Cytogenetics
MH  - DNA-Binding Proteins/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Neoplasms, Connective and Soft Tissue/*genetics/pathology
MH  - Oncogene Proteins, Fusion/*genetics
MH  - RNA-Binding Protein FUS/*genetics
MH  - Receptors, Steroid/*genetics
MH  - Receptors, Thyroid Hormone/*genetics
MH  - Soft Tissue Neoplasms/*genetics/pathology
MH  - Translocation, Genetic
OTO - NOTNLM
OT  - 16p11.2
OT  - 9q22
OT  - Extraskeletal myxoid chondrosarcoma
OT  - FUS
OT  - NR4A3
EDAT- 2014/08/19 06:00
MHDA- 2015/01/07 06:00
CRDT- 2014/08/19 06:00
PHST- 2014/04/03 00:00 [received]
PHST- 2014/06/08 00:00 [revised]
PHST- 2014/06/16 00:00 [accepted]
PHST- 2014/08/19 06:00 [entrez]
PHST- 2014/08/19 06:00 [pubmed]
PHST- 2015/01/07 06:00 [medline]
AID - S2210-7762(14)00138-0 [pii]
AID - 10.1016/j.cancergen.2014.06.024 [doi]
PST - ppublish
SO  - Cancer Genet. 2014 Jun;207(6):276-80. doi: 10.1016/j.cancergen.2014.06.024. Epub 
      2014 Jun 26.