Low-Grade Fibromyxoid Sarcoma: Incidence, Treatment Strategy of Metastases, and Clinical Significance of theFUSGene

Abstract

Aim. The aim of this study was to assess the incidence of low-grade fibromyxoid sarcoma (LGFMS), present treatment results of metastatic LGFMS, and investigate the clinical significance of the FUS gene rearrangement. Methods. This study included 14 consecutive LGFMS patients treated at the Aarhus Sarcoma Centre in 1979–2010. Fluorescent in situ hybridization (FISH) analysis for FUS break-apart was performed for all patients. Results. The incidence of LGFMS was 0.18 per million, representing 0.6% of all soft tissue sarcomas. Four patients needed multiple biopsies/resections before the correct diagnosis was made. Four patients experienced local recurrence, and three patients developed metastases. The treatment of metastatic LGFMS varied from multiagent chemotherapy to repeated, selective surgery of operable metastases. The best response to chemotherapy was short-term stabilization of disease progression, seen with Trabectedin. The prevalence of the FUS break-apart was 21.4%. We found no significant difference in clinical characteristics and outcomes in correlation with the FUS break-apart. Conclusion. LGFMS is a rare disease with multiple challenges. The FUS break-apart was not associated with local recurrence or metastases in our study. To date the only treatment resulting in disease-free periods is surgery; however further investigation into the management of metastatic LGFMS is necessary.

Low-grade fibromyxoid sarcoma in inguinal region:a case report and literature review

“…Both the CREB3L2 and CREB3L1 genes encode transcription factors [6] . A single-centre retrospective review of 14 patients with LGFMS found no association between the presence of the FUS-CREB3L2 fusion gene and local recurrence or metastatic disease [4] .…”

“…In the aspect of molecular biology, chromosomal translocations are found in nearly all patients with LGFMS. The t(7;16)(q32-34; p11) chromosomal translocation and the resulting fusion of FUS RNA binding protein (FUS)-cAMP responsive element binding protein 3-like 2 (CREB3L2) is the most frequently seen (75-95% of patients with LGFMS), whilst the FUS-CREB3L1 fusion gene is present in approximately 5% of cases of LGFMS [4,5] . Both the CREB3L2 and CREB3L1 genes encode transcription factors [6] .…”

“…However, local recurrence can occur once or more after surgery, and the tumor can be even transferred to the lung for some patients. For patients with metastasis, surgical resection of the tumor is still the most effective method [4] , while radiotherapy and chemotherapy have no obvious bene ts in reducing the recurrence, metastasis and prolonging the survival time of LGFMS patients [7] . In a case series of 36 patients with LGFMS treated with surgical resection with curative intent, 5-and 15-year local control rates were 83% and 79%, respectively [5] .…”

Low‐grade fibromyxoid sarcoma of acral sites: Case report and literature review

“…Involvement of acral sites is not highly emphasized in the literature. After encountering this case, we reviewed the literature and found 24 cases (mostly embedded in case series) of LGFMS involving distal extremities and acral sites (Table ) …”

Low-Grade Fibromyxoid Sarcoma in the Left Gluteal Region Presenting as Sciatic Nerve Pain

“…Chemotherapy is reserved for patients whose tumors recur locally or spread to distant sites [14] [15]. No adjuvant treatments were administered to our patient as they would have been unconventional for low-grade fibromyxoid sarcoma.…”