PMID- 10088552
OWN - NLM
STAT- MEDLINE
DCOM- 19990401
LR  - 20190722
IS  - 0046-8177 (Print)
IS  - 0046-8177 (Linking)
VI  - 30
IP  - 3
DP  - 1999 Mar
TI  - Detection of EWS-FLI-1 fusion in Ewing's sarcoma/peripheral primitive 
      neuroectodermal tumor by fluorescence in situ hybridization using formalin-fixed 
      paraffin-embedded tissue.
PG  - 324-30
AB  - The balanced translocation t(11;22)(q24;q12) is specific for the Ewing's 
      sarcoma/peripheral primitive neuroectodermal tumors (ES/PNETs) and results in the 
      EWS/FLI-1 fusion transcript, which can be detected by reverse transcription 
      polymerase chain reaction (RT-PCR). Recent studies also have used fluorescence in 
      situ hybridization (FISH) to show the translocation; however, most of these have 
      been performed on cell lines or touch preparations and short-term cultures of 
      tumors. Moreover, the existing probes generally have shown only the break in the 
      specific chromosomes rather than the translocation itself. We describe our 
      findings with a new set of probes that localize to 22q12 (EWS) and 11q24 (FLI-1) 
      and directly show the translocation as juxtaposed red-green signals on der(22) in 
      nuclei extracted from formalin-fixed, paraffm-embedded tissues. After 
      establishing the specificity of the probes (on metaphase spreads and interphase 
      nuclei in two translocation-positive cell lines and normal peripheral blood 
      lymphocytes), we evaluated 11 ES/PNETs and 10 other tumors (four alveolar 
      rhabdomyosarcomas, three neuroblastomas, two lymphomas, one extramedullary 
      myeloid tumor) using a two-color FISH assay. All 11 ES/PNETs showed fusion 
      signals in 20% to 80% of evaluable nuclei. In two lymphoma cases, random 
      overlapping signals were present in 2% and 4% of nuclei, whereas the remaining 
      eight tumors were negative. The presence of t(11;22) was confirmed by RT-PCR in 
      10 of 11 ES/PNETs. We conclude that FISH analysis with this newly designed probe 
      pair is a specific and sensitive method of detecting t(11;22) on routinely 
      processed tissue and can be useful in the differential diagnosis of ES/PNETs from 
      other small round blue cell tumors when only fixed tissue is available.
FAU - Kumar, S
AU  - Kumar S
AD  - Laboratory of Pathology, National Cancer Institute, and Cancer Genetics Branch, 
      National Human Genome Research Institute, National Institutes of Health, 
      Bethesda, MD 20892-1500, USA.
FAU - Pack, S
AU  - Pack S
FAU - Kumar, D
AU  - Kumar D
FAU - Walker, R
AU  - Walker R
FAU - Quezado, M
AU  - Quezado M
FAU - Zhuang, Z
AU  - Zhuang Z
FAU - Meltzer, P
AU  - Meltzer P
FAU - Tsokos, M
AU  - Tsokos M
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
RN  - 0 (EWS-FLI fusion protein)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Proto-Oncogene Protein c-fli-1)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (Transcription Factors)
RN  - 1HG84L3525 (Formaldehyde)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Female
MH  - Formaldehyde
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Neuroectodermal Tumors, Primitive/*genetics/pathology
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Paraffin Embedding
MH  - Proto-Oncogene Protein c-fli-1
MH  - RNA-Binding Protein EWS
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sarcoma, Ewing/*genetics/pathology
MH  - Transcription Factors/*genetics
EDAT- 1999/03/24 00:00
MHDA- 1999/03/24 00:01
CRDT- 1999/03/24 00:00
PHST- 1999/03/24 00:00 [pubmed]
PHST- 1999/03/24 00:01 [medline]
PHST- 1999/03/24 00:00 [entrez]
AID - S0046-8177(99)90012-6 [pii]
AID - 10.1016/s0046-8177(99)90012-6 [doi]
PST - ppublish
SO  - Hum Pathol. 1999 Mar;30(3):324-30. doi: 10.1016/s0046-8177(99)90012-6.