PMID- 18162764
OWN - NLM
STAT- MEDLINE
DCOM- 20080304
LR  - 20220408
IS  - 0147-5185 (Print)
IS  - 0147-5185 (Linking)
VI  - 32
IP  - 1
DP  - 2008 Jan
TI  - The utility of fluorescence in situ hybridization (FISH) in the diagnosis of 
      myxoid soft tissue neoplasms.
PG  - 8-13
AB  - Diagnosing myxoid soft tissue neoplasms can be challenging because of overlapping 
      histologic features. Distinct chromosomal translocations have been identified in 
      several myxoid sarcomas, including t(12;16)(q13;p11) FUS-DDIT3 in myxoid 
      liposarcoma, t(7;16)(q34;p11) FUS-CREB3L2 in low-grade fibromyxoid sarcoma, and 
      t(9;22)(q31;q12) EWSR1-NR4A3 in extraskeletal myxoid chondrosarcoma. These 
      recurrent chromosomal alterations are attractive targets for diagnostic studies. 
      To that end, dual-color, break-apart fluorescence in situ hybridization (FISH) 
      probes spanning the genomic regions of EWSR1 (22q12), DDIT3 (12q13), and FUS 
      (16p11) (Vysis, Downer's Grove, IL) were evaluated in formalin-fixed, 
      paraffin-embedded tissues from myxoid neoplasms, including intramuscular myxoma 
      (n=10), myxoid liposarcoma (n=18), low-grade fibromyxoid sarcoma (n=10), 
      extraskeletal myxoid chondrosarcoma (n=13), and myxofibrosarcoma (n=8). Of the 
      myxoid liposarcomas, 18/18 cases had a rearrangement of the DDIT3 gene, with 
      17/18 (94.4%) showing both DDIT3 and FUS gene rearrangements. A FUS gene 
      rearrangement was identified in 7/10 (70%) of low-grade fibromyxoid sarcomas, 
      with no changes involving EWSR1 or DDIT3. An EWSR1 translocation was seen in 6/13 
      (46.2%) of extraskeletal myxoid chondrosarcomas, without changes in DDIT3 or FUS 
      genes. The remaining neoplasms studied showed no rearrangements involving DDIT3, 
      FUS, or EWSR1 genes. In conclusion, interphase FISH using DDIT3 and FUS probes 
      identifies the characteristic translocation in myxoid liposarcoma. FUS and EWSR1 
      probes are useful in confirming the diagnosis of low-grade fibromyxoid sarcoma 
      and extraskeletal myxoid chondrosarcoma, respectively. The specificity of the 
      probes is documented as none of the non-translocation-associated myxoid tumors 
      showed genomic abnormalities with the probes tested. FISH is capable of providing 
      specific ancillary information useful in this often difficult differential 
      diagnosis.
FAU - Downs-Kelly, Erinn
AU  - Downs-Kelly E
AD  - Department of Anatomic Pathology, Cleveland Clinic, Cleveland, OH 44195, USA.
FAU - Goldblum, John R
AU  - Goldblum JR
FAU - Patel, Raj M
AU  - Patel RM
FAU - Weiss, Sharon W
AU  - Weiss SW
FAU - Folpe, Andrew L
AU  - Folpe AL
FAU - Mertens, Fredrick
AU  - Mertens F
FAU - Hartke, Marybeth
AU  - Hartke M
FAU - Tubbs, Raymond R
AU  - Tubbs RR
FAU - Skacel, Marek
AU  - Skacel M
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
RN  - 0 (Calmodulin-Binding Proteins)
RN  - 0 (DDIT3 protein, human)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (RNA-Binding Protein FUS)
RN  - 0 (RNA-Binding Proteins)
RN  - 147336-12-7 (Transcription Factor CHOP)
SB  - IM
MH  - Calmodulin-Binding Proteins/genetics
MH  - Diagnosis, Differential
MH  - Gene Rearrangement
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Leiomyosarcoma/*diagnosis/genetics
MH  - Liposarcoma, Myxoid/*diagnosis/genetics
MH  - Myxoma/*diagnosis/genetics
MH  - RNA-Binding Protein EWS
MH  - RNA-Binding Protein FUS/genetics
MH  - RNA-Binding Proteins/genetics
MH  - Soft Tissue Neoplasms/*diagnosis
MH  - Transcription Factor CHOP/genetics
EDAT- 2007/12/29 09:00
MHDA- 2008/03/05 09:00
CRDT- 2007/12/29 09:00
PHST- 2007/12/29 09:00 [pubmed]
PHST- 2008/03/05 09:00 [medline]
PHST- 2007/12/29 09:00 [entrez]
AID - 00000478-200801000-00002 [pii]
AID - 10.1097/PAS.0b013e3181578d5a [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2008 Jan;32(1):8-13. doi: 10.1097/PAS.0b013e3181578d5a.