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

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 reve...

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Autores principales: Rose, Barry, Tamvakopoulos, George S, Dulay, Kamaljit, Pollock, Robin, Skinner, John, Briggs, Timothy, Cannon, Steven
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063187/
https://www.ncbi.nlm.nih.gov/pubmed/21406083
http://dx.doi.org/10.1186/1749-799X-6-15
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author Rose, Barry
Tamvakopoulos, George S
Dulay, Kamaljit
Pollock, Robin
Skinner, John
Briggs, Timothy
Cannon, Steven
author_facet Rose, Barry
Tamvakopoulos, George S
Dulay, Kamaljit
Pollock, Robin
Skinner, John
Briggs, Timothy
Cannon, Steven
author_sort Rose, Barry
collection PubMed
description 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.
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spelling pubmed-30631872011-03-24 The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma Rose, Barry Tamvakopoulos, George S Dulay, Kamaljit Pollock, Robin Skinner, John Briggs, Timothy Cannon, Steven J Orthop Surg Res Research Article 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. BioMed Central 2011-03-15 /pmc/articles/PMC3063187/ /pubmed/21406083 http://dx.doi.org/10.1186/1749-799X-6-15 Text en Copyright ©2011 Rose et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Rose, Barry
Tamvakopoulos, George S
Dulay, Kamaljit
Pollock, Robin
Skinner, John
Briggs, Timothy
Cannon, Steven
The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma
title The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma
title_full The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma
title_fullStr The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma
title_full_unstemmed The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma
title_short The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma
title_sort clinical significance of the fus-creb3l2 translocation in low-grade fibromyxoid sarcoma
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063187/
https://www.ncbi.nlm.nih.gov/pubmed/21406083
http://dx.doi.org/10.1186/1749-799X-6-15
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