Abstract
BackgroundLow-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.MethodsWe 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.ResultsResults 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.ConclusionsRT-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.
Highlights
Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft-tissue neoplasm with a deceptively benign histological appearance
The aim of this paper is to review our series of patients with LGFMS to assess the relationship between FUS-CREB3L2 test results using reverse-transcriptase polymerase chain reaction (RT-PCR) and fluorescence in situ hybridisation (FISH), and to assess any correlation these may have with the clinical outcome
All patients underwent pre-operative Magnetic Resonance Imaging (MRI), and the diagnosis was reached on a needle core biopsy which was followed by wide local excision, or on excision biopsy
Summary
Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft-tissue neoplasm with a deceptively benign histological appearance. The FUSCREB3L2 gene translocation, which occurs commonly in LGFMS, may be detected by reverse-transcriptase polymerase chain reaction (RT-PCR) and fluorescence in situ hybridisation (FISH). Low-grade fibromyxoid sarcoma (LGFMS) is a rare lowgrade neoplasm first described in 1987 [1]. LGFMS occurs in the trunk and proximal extremities, and lies deep to fascia, it may occur superficially [1,2,3,5]. It usually presents as a painless mass. There have been case reports of the tumour arising intra-cranially [6,7], within the thoracic cavity [8] and abdominal cavity [9]
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