PMID- 28748349
OWN - NLM
STAT- MEDLINE
DCOM- 20171113
LR  - 20181113
IS  - 1432-2307 (Electronic)
IS  - 0945-6317 (Linking)
VI  - 471
IP  - 5
DP  - 2017 Nov
TI  - Desmoplastic small round cell tumor: evaluation of reverse 
      transcription-polymerase chain reaction and fluorescence in situ hybridization as 
      ancillary molecular diagnostic techniques.
PG  - 631-640
LID - 10.1007/s00428-017-2207-y [doi]
AB  - Desmoplastic small round cell tumor (DSRCT) is a rare, biologically aggressive 
      soft tissue neoplasm of uncertain differentiation, most often arising in the 
      abdominal and pelvic cavities of adolescents and young adults with a striking 
      male predominance. Histologically, it is characterized by islands of uniform 
      small round cells in prominent desmoplastic stroma, and it has a 
      polyimmunophenotypic profile, typically expressing WT1 and cytokeratin, desmin, 
      and neural/neuroendocrine differentiation markers to varying degrees. Tumors at 
      other sites and with variant morphology are more rarely described. DSRCT is 
      associated with a recurrent t(11;22)(p13;q12) translocation, leading to the 
      characteristic EWSR1-WT1 gene fusion. Fluorescence in situ hybridization (FISH), 
      to detect EWSR1 rearrangement, and reverse transcription-polymerase chain 
      reaction (RT-PCR) to assess for EWSR1-WT1 fusion transcripts are routine 
      diagnostic ancillary tools. We present a large institutional comparative series 
      of FISH and RT-PCR for DSRCT diagnosis. Twenty-six specimens (from 25 patients) 
      histologically diagnosed as DSRCT were assessed for EWSR1 rearrangement and 
      EWSR1-WT1 fusion transcripts. Of these 26 specimens, 24 yielded positive results 
      with either FISH or RT-PCR or both. FISH was performed in 23 samples, with EWSR1 
      rearrangement seen in 21 (91.3%). RT-PCR was performed in 18 samples, of which 13 
      (72.2%) harbored EWSR1-WT1 fusion transcripts. The sensitivity of FISH in 
      detecting DSRCT was 91.3%, and that of RT-PCR was 92.8% following omission of 
      four technical failures. Therefore, both methods are comparable in terms of 
      sensitivity. FISH is more sensitive if technical failures for RT-PCR are taken 
      into account, and RT-PCR is more specific in confirming DSRCT. Both methods 
      complement each other by confirming cases that the other method may not. In 
      isolation, FISH is a relatively non-specific diagnostic adjunct due to the number 
      of different neoplasms that can harbor EWSR1 rearrangement, such as Ewing 
      sarcoma. However, in cases with appropriate morphology and a typical pattern of 
      immunostaining, FISH is confirmatory of the diagnosis.
FAU - Mohamed, Mustafa
AU  - Mohamed M
AD  - Sarcoma Unit, The Royal Marsden NHS Foundation Trust, 203 Fulham Road, London, 
      SW3 6JJ, UK.
FAU - Gonzalez, David
AU  - Gonzalez D
AD  - Molecular Diagnostics, Royal Marsden Hospital, Surrey, Sutton, UK.
FAU - Fritchie, Karen J
AU  - Fritchie KJ
AD  - Divisions of Anatomic Pathology and Laboratory Medicine & Pathology, Mayo Clinic, 
      Rochester, MN, USA.
FAU - Swansbury, John
AU  - Swansbury J
AD  - Clinical Cytogenetics, Royal Marsden Hospital, Surrey, Sutton, UK.
FAU - Wren, Dorte
AU  - Wren D
AD  - Molecular Diagnostics, Royal Marsden Hospital, Surrey, Sutton, UK.
FAU - Benson, Charlotte
AU  - Benson C
AD  - Sarcoma Unit, The Royal Marsden NHS Foundation Trust, 203 Fulham Road, London, 
      SW3 6JJ, UK.
FAU - Jones, Robin L
AU  - Jones RL
AD  - Sarcoma Unit, The Royal Marsden NHS Foundation Trust, 203 Fulham Road, London, 
      SW3 6JJ, UK.
FAU - Fisher, Cyril
AU  - Fisher C
AD  - Sarcoma Unit, The Royal Marsden NHS Foundation Trust, 203 Fulham Road, London, 
      SW3 6JJ, UK.
FAU - Thway, Khin
AU  - Thway K
AD  - Sarcoma Unit, The Royal Marsden NHS Foundation Trust, 203 Fulham Road, London, 
      SW3 6JJ, UK. khin.thway@rmh.nhs.uk.
LA  - eng
PT  - Journal Article
DEP - 20170726
PL  - Germany
TA  - Virchows Arch
JT  - Virchows Archiv : an international journal of pathology
JID - 9423843
RN  - 0 (Calmodulin-Binding Proteins)
RN  - 0 (EWS1-WT1 fusion protein, human)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (RNA-Binding Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Calmodulin-Binding Proteins/analysis/genetics
MH  - Child
MH  - Desmoplastic Small Round Cell Tumor/*diagnosis/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/analysis/genetics
MH  - RNA-Binding Protein EWS
MH  - RNA-Binding Proteins/analysis/genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction/*methods
MH  - Young Adult
OTO - NOTNLM
OT  - Desmoplastic small round cell tumor
OT  - Fluorescence in situ hybridization
OT  - Reverse transcription-polymerase chain reaction
OT  - Sarcoma
EDAT- 2017/07/28 06:00
MHDA- 2017/11/14 06:00
CRDT- 2017/07/28 06:00
PHST- 2017/04/07 00:00 [received]
PHST- 2017/07/18 00:00 [accepted]
PHST- 2017/06/17 00:00 [revised]
PHST- 2017/07/28 06:00 [pubmed]
PHST- 2017/11/14 06:00 [medline]
PHST- 2017/07/28 06:00 [entrez]
AID - 10.1007/s00428-017-2207-y [pii]
AID - 10.1007/s00428-017-2207-y [doi]
PST - ppublish
SO  - Virchows Arch. 2017 Nov;471(5):631-640. doi: 10.1007/s00428-017-2207-y. Epub 2017 
      Jul 26.