Abstract
Introduction: Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue neoplasm most commonly presenting in young to middle-aged adults. LGFMS is an indolent tumour with a deceptively benign histological appearance. Local recurrences are not uncommon and tumours can metastasise. The FUS-CREB3L2 gene translocation has been shown to occur commonly in cases of LGFMS. The literature suggests that the FUS-CREB3L2 fusion-gene is a specific marker for LGFMS.
Methods: We report the cytogenetic analysis of 29 LGFMS cases, and clinical outcomes of 21 patients treated surgically between 1998 and 2008 at our regional bone and soft-tissue tumour centre.
Results: The mean age was 45.4 years and mean follow-up 30.1 months. The most common tumour location was the lower limb. There were no cases of local recurrence or metastasis. Fifteen patients (52.2%) were FUS-CREB3L2 translocation-positive, suggesting either that translocation incidence in our series is lower than other studies, or that reverse-transcriptase polymerase chain reaction (PCR) is less sensitive than the literature suggests. Patients testing positive presented at a younger age (38.2 years, compared to 45.6 years), and had larger tumours than their negative counterparts (mean diameter 97.6mm, compared to 65.2mm), although there was no difference in clinical outcome.
Discussion: We conclude that PCR testing for the FUS-CREB3L2 translocation is a useful tool for confirming the diagnosis of LGFMS, but has no role in predicting short-term clinical outcome. It is not necessary to perform wide excision, and marginal margins are adequate. Longer-term follow-up is required to elucidate differences in the long-term clinical outcome between translocation-positive and negative patients.
Correspondence should be addressed to BOOS at the Royal College of Surgeons, 35–43 Lincoln’s Inn Fields, London WC2A 3PE, England.
