Journal Article

The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma

Tamvakopoulos, George S, Pollock, Robin, Briggs, Timothy, Cannon, Steven, Dulay, Kamaljit, Skinner, John, Rose, Barry

2011

Overview

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.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Adolescent / Adult / Aged / Artificial chromosomes / Basic-Leucine Zipper Transcription Factors - genetics / Care and treatment / Cloning / Diagnosis / Female / Fibrosarcoma - diagnosis / Fibrosarcoma - genetics / Follow-Up Studies / Genes / Histology / Humans / In Situ Hybridization, Fluorescence / Male / Medicine / Medicine & Public Health / Methods / Middle Aged / Orthopedic surgery / Orthopedics / Osteosarcoma / Patient outcomes / Physiological aspects / Radiation therapy / Recurrence / Research Article / Retrospective Studies / Reverse Transcriptase Polymerase Chain Reaction / RNA-Binding Protein FUS - genetics / Sensitivity and Specificity / Soft Tissue Neoplasms - diagnosis / Soft Tissue Neoplasms - genetics / Surgical Orthopedics / Translocation (Genetics) / Translocation, Genetic - genetics / Young Adult