title: The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma.
abstract: BACKGROUND
  Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft-tissue neoplasm with a deceptively benign histological appearance. Local recurrences and metastases can manifest many years following excision. The FUS-CREB3L2 gene translocation, which occurs commonly in LGFMS, may be detected by reverse-transcriptase polymerase chain reaction (RT-PCR) and fluorescence in situ hybridisation (FISH). We assessed the relationship between clinical outcome and translocation test result by both methods.
  
  
  METHODS
  We report genetic analysis of 23 LGFMS cases and clinical outcomes of 18 patients with mean age of 40.6 years. During follow-up (mean 24.8 months), there were no cases of local recurrence or metastasis. One case was referred with a third recurrence of a para-spinal tumour previously incorrectly diagnosed as a neurofibroma.
  
  
  RESULTS
  Results showed 50% of cases tested positive for the FUS-CREB3L2 translocation by RT-PCR and 81.8% by FISH, suggesting FISH is more sensitive than RT-PCR for confirming LGFMS diagnosis. Patients testing positive by both methods tended to be younger and had larger tumours. Despite this, there was no difference in clinical outcome seen during short and medium-term follow-up.
  
  
  CONCLUSIONS
  RT-PCR and FISH for the FUS-CREB3L2 fusion transcript are useful tools for confirming LGFMS diagnosis, but have no role in predicting medium-term clinical outcome. Due to the propensity for late recurrence or metastasis, wide excision is essential, and longer-term follow-up is required. This may identify a difference in long-term clinical outcome between translocation-positive and negative patients.
authors.affiliation: The Royal National Orthopaedic Hospital NHS Trust, The London Bone and Soft-Tissue Tumour Unit, London, UK. barryrose@doctors.org.uk
authors.forename: Barry
authors.initials: B
authors.lastname: Rose
authors.forename: George S
authors.initials: GS
authors.lastname: Tamvakopoulos
authors.forename: Kamaljit
authors.initials: K
authors.lastname: Dulay
authors.forename: Robin
authors.initials: R
authors.lastname: Pollock
authors.forename: John
authors.initials: J
authors.lastname: Skinner
authors.forename: Timothy
authors.initials: T
authors.lastname: Briggs
authors.forename: Steven
authors.initials: S
authors.lastname: Cannon
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D050976:Basic-Leucine Zipper Transcription Factors / Q000235:genetics*; D005260:Female; D005354:Fibrosarcoma / Q000175:diagnosis* / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D012008:Recurrence; D012189:Retrospective Studies; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D012983:Soft Tissue Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D055815:Young Adult
chemical_list: D050976:Basic-Leucine Zipper Transcription Factors; C518609:CREB3L2 protein, human; D034702:RNA-Binding Protein FUS