tailieunhanh - báo cáo hóa học:" The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma"

Tuyển tập các báo cáo nghiên cứu về hóa học được đăng trên tạp chí sinh học quốc tế đề tài : The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma | Rose et al. Journal of Orthopaedic Surgery and Research 2011 6 15 http content 6 1 15 JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH RESEARCH ARTICLE Open Access The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma 1 1 2 11 1 Barry Rose George S Tamvakopoulos Kamaljit Dulay Robin Pollock John Skinner Timothy Briggs Steven Cannon 1 Abstract 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 years. During follow-up mean 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 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 .