PMID- 24441665
OWN - NLM
STAT- MEDLINE
DCOM- 20140626
LR  - 20171116
IS  - 1532-0979 (Electronic)
IS  - 0147-5185 (Linking)
VI  - 38
IP  - 6
DP  - 2014 Jun
TI  - Recurrent EWSR1-CREB3L1 gene fusions in sclerosing epithelioid fibrosarcoma.
PG  - 801-8
LID - 10.1097/PAS.0000000000000158 [doi]
AB  - Sclerosing epithelioid fibrosarcoma (SEF) and low-grade fibromyxoid sarcoma 
      (LGFMS) are 2 distinct types of sarcoma, with a subset of cases showing 
      overlapping morphologic and immunohistochemical features. LGFMS is characterized 
      by expression of the MUC4 protein, and about 90% of cases display a distinctive 
      FUS-CREB3L2 gene fusion. In addition, SEF is often MUC4 positive, but is 
      genetically less well studied. Fluorescence in situ hybridization (FISH) studies 
      have shown involvement of the FUS gene in the majority of so-called hybrid 
      LGFMS/SEF and in 10% to 25% of sarcomas with pure SEF morphology. In this study, 
      we investigated a series of 10 primary tumors showing pure SEF morphology, 4 
      cases of LGFMS that at local or distant relapse showed predominant SEF 
      morphology, and 1 primary hybrid LGFMS/SEF. All but 1 case showed diffuse 
      expression for MUC4. Using FISH, reverse transcription polymerase chain reaction, 
      and/or mRNA sequencing in selected cases, we found recurrent EWSR1-CREB3L1 fusion 
      transcripts by reverse transcription polymerase chain reaction in 3/10 pure SEF 
      cases and splits and deletions of the EWSR1 and/or CREB3L1 genes by FISH in 6 
      additional cases. All 5 cases of LGFMS with progression to SEF morphology or 
      hybrid features had FUS-CREB3L2 fusion transcripts. Our results indicate that 
      EWSR1 and CREB3L1 rearrangements are predominant over FUS and CREB3L2 
      rearrangements in pure SEF, highlighting that SEF and LGFMS are different tumor 
      types, with different impacts on patient outcome.
FAU - Arbajian, Elsa
AU  - Arbajian E
AD  - *Department of Clinical Genetics, University and Regional Laboratories, Skane 
      University Hospital, Lund University, Lund, Sweden daggerDepartment of Musculoskeletal 
      Pathology and Orthopaedic Oncology, Royal Orthopaedic Hospital NHS Foundation 
      Trust and Division of Cancer Studies, Medical School, University of Birmingham, 
      Birmingham double daggerDepartment of Histopathology, Royal Marsden Hospital, London, UK.
FAU - Puls, Florian
AU  - Puls F
FAU - Magnusson, Linda
AU  - Magnusson L
FAU - Thway, Khin
AU  - Thway K
FAU - Fisher, Cyril
AU  - Fisher C
FAU - Sumathi, Vaiyapuri P
AU  - Sumathi VP
FAU - Tayebwa, Johnbosco
AU  - Tayebwa J
FAU - Nord, Karolin H
AU  - Nord KH
FAU - Kindblom, Lars-Gunnar
AU  - Kindblom LG
FAU - Mertens, Fredrik
AU  - Mertens F
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (CREB3L1 protein, human)
RN  - 0 (Calmodulin-Binding Proteins)
RN  - 0 (Cyclic AMP Response Element-Binding Protein)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (MUC4 protein, human)
RN  - 0 (Mucin-4)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (RNA-Binding Protein FUS)
RN  - 0 (RNA-Binding Proteins)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Biomarkers, Tumor/analysis/*genetics
MH  - Calmodulin-Binding Proteins/*genetics
MH  - Cyclic AMP Response Element-Binding Protein/*genetics
MH  - *Epithelioid Cells/chemistry/pathology
MH  - Female
MH  - Fibroma/chemistry/*genetics/pathology
MH  - Fibrosarcoma/chemistry/*genetics/secondary
MH  - *Gene Fusion
MH  - Gene Rearrangement
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Mucin-4/analysis
MH  - Neoplasm Grading
MH  - Neoplasm Recurrence, Local
MH  - Nerve Tissue Proteins/*genetics
MH  - Phenotype
MH  - RNA, Messenger/analysis
MH  - RNA-Binding Protein EWS
MH  - RNA-Binding Protein FUS/genetics
MH  - RNA-Binding Proteins/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sclerosis
MH  - Sequence Analysis, RNA
MH  - Soft Tissue Neoplasms/chemistry/*genetics/pathology
MH  - Young Adult
EDAT- 2014/01/21 06:00
MHDA- 2014/06/27 06:00
CRDT- 2014/01/21 06:00
PHST- 2014/01/21 06:00 [entrez]
PHST- 2014/01/21 06:00 [pubmed]
PHST- 2014/06/27 06:00 [medline]
AID - 10.1097/PAS.0000000000000158 [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2014 Jun;38(6):801-8. doi: 10.1097/PAS.0000000000000158.