PMID- 25804255
OWN - NLM
STAT- MEDLINE
DCOM- 20160303
LR  - 20150513
IS  - 1532-8198 (Electronic)
IS  - 1092-9134 (Linking)
VI  - 19
IP  - 3
DP  - 2015 Jun
TI  - Angiomatoid fibrous histiocytoma: comparison of fluorescence in situ 
      hybridization and reverse transcription polymerase chain reaction as adjunct 
      diagnostic modalities.
PG  - 137-42
LID - S1092-9134(15)00046-5 [pii]
LID - 10.1016/j.anndiagpath.2015.03.004 [doi]
AB  - Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue neoplasm of 
      intermediate biologic potential and uncertain differentiation, most often arising 
      in the extremities of children and young adults. Although it has characteristic 
      histologic features of a lymphoid cuff surrounding nodules of ovoid cells with 
      blood-filled cystic cavities, diagnosis is often difficult due to its morphologic 
      heterogeneity and lack of specific immunoprofile. Angiomatoid fibrous 
      histiocytoma is associated with recurrent chromosomal translocations, leading to 
      characteristic EWSR1-CREB1, EWSR1-ATF1, and, rarely, FUS-ATF1 gene fusions; 
      fluorescence in situ hybridization (FISH), detecting EWSR1 or FUS rearrangements, 
      and reverse transcription-polymerase chain reaction (RT-PCR) for EWSR1-CREB1 and 
      EWSR1-ATF1 fusion transcripts have become routine ancillary tools. We present a 
      large comparative series of FISH and RT-PCR for AFH. Seventeen neoplasms (from 16 
      patients) histologically diagnosed as AFH were assessed for EWSR1 rearrangements 
      or EWSR1-CREB1 and EWSR1-ATF1 fusion transcripts. All 17 were positive for either 
      FISH or RT-PCR or both. Of 16, 14 (87.5%) had detectable EWSR1-CREB1 or 
      EWSR1-ATF1 fusion transcripts by RT-PCR, whereas 13 (76.5%) of 17 had positive 
      EWSR1 rearrangement with FISH. All 13 of 13 non-AFH control neoplasms failed to 
      show EWSR1-CREB1 or EWSR1-ATF1 fusion transcripts, whereas EWSR1 rearrangement 
      was present in 2 of these 13 cases (which were histopathologically myoepithelial 
      neoplasms). This study shows that EWSR1-CREB1 or EWSR1-ATF1 fusions predominate 
      in AFH (supporting previous reports that FUS rearrangement is rare in AFH) and 
      that RT-PCR has a comparable detection rate to FISH for AFH. Importantly, cases 
      of AFH can be missed if RT-PCR is not performed in conjunction with FISH, and 
      RT-PCR has the added advantage of specificity, which is crucial, as EWSR1 
      rearrangements are present in a variety of neoplasms in the histologic 
      differential diagnosis of AFH, that differ in behavior and treatment.
CI  - Copyright (c) 2015 Elsevier Inc. All rights reserved.
FAU - Thway, Khin
AU  - Thway K
AD  - Sarcoma Unit, Royal Marsden Hospital, London, UK. Electronic address: 
      khin.thway@rmh.nhs.uk.
FAU - Gonzalez, David
AU  - Gonzalez D
AD  - Molecular Diagnostics, Royal Marsden Hospital, Sutton, Surrey, UK.
FAU - Wren, Dorte
AU  - Wren D
AD  - Molecular Diagnostics, Royal Marsden Hospital, Sutton, Surrey, UK.
FAU - Dainton, Melissa
AU  - Dainton M
AD  - Clinical Cytogenetics, Royal Marsden Hospital, Sutton, Surrey, UK.
FAU - Swansbury, John
AU  - Swansbury J
AD  - Clinical Cytogenetics, Royal Marsden Hospital, Sutton, Surrey, UK.
FAU - Fisher, Cyril
AU  - Fisher C
AD  - Sarcoma Unit, Royal Marsden Hospital, London, UK.
LA  - eng
PT  - Journal Article
DEP - 20150314
PL  - United States
TA  - Ann Diagn Pathol
JT  - Annals of diagnostic pathology
JID - 9800503
RN  - 0 (EWSR1-ATF1 fusion protein, human)
RN  - 0 (EWSR1-CREB1 fusion protein, human)
RN  - 0 (FUS protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA-Binding Protein FUS)
RN  - Histiocytoma, Angiomatoid Fibrous
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Female
MH  - Histiocytoma, Malignant Fibrous/*diagnosis/genetics/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/genetics/metabolism
MH  - RNA-Binding Protein FUS/genetics/metabolism
MH  - Reverse Transcriptase Polymerase Chain Reaction/methods
MH  - Translocation, Genetic
MH  - Young Adult
OTO - NOTNLM
OT  - Angiomatoid fibrous histiocytoma
OT  - EWSR1-ATF1
OT  - EWSR1-CREB1
OT  - FUS-ATF1
OT  - genetics
OT  - soft tissue tumor
OT  - translocation
EDAT- 2015/03/26 06:00
MHDA- 2016/03/05 06:00
CRDT- 2015/03/26 06:00
PHST- 2015/03/06 00:00 [received]
PHST- 2015/03/09 00:00 [accepted]
PHST- 2015/03/26 06:00 [entrez]
PHST- 2015/03/26 06:00 [pubmed]
PHST- 2016/03/05 06:00 [medline]
AID - S1092-9134(15)00046-5 [pii]
AID - 10.1016/j.anndiagpath.2015.03.004 [doi]
PST - ppublish
SO  - Ann Diagn Pathol. 2015 Jun;19(3):137-42. doi: 10.1016/j.anndiagpath.2015.03.004. 
      Epub 2015 Mar 14.