The Royal National Orthopaedic Hospital NHS Trust, The London Bone and Soft-Tissue Tumour Unit, London, UK.
J Orthop Surg Res. 2011 Mar 15;6:15. doi: 10.1186/1749-799X-6-15.
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.
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 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.
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.
低度纤维黏液样肉瘤（LGFMS）是一种罕见的软组织肿瘤，具有看似良性的组织学表现。局部复发和转移可在切除后多年发生。FUS-CREB3L2 基因易位在 LGFMS 中常见，可通过逆转录聚合酶链反应（RT-PCR）和荧光原位杂交（FISH）检测。我们评估了这两种方法的易位检测结果与临床结果之间的关系。
我们报告了 23 例 LGFMS 病例的遗传学分析和 18 例平均年龄为 40.6 岁的患者的临床结果。在随访期间（平均 24.8 个月），无局部复发或转移病例。有 1 例患者因脊柱旁肿瘤第三次复发而就诊，该肿瘤之前被误诊为神经纤维瘤。
结果显示，50%的病例通过 RT-PCR 和 81.8%的病例通过 FISH 检测出 FUS-CREB3L2 易位，这表明 FISH 比 RT-PCR 更能敏感地确认 LGFMS 的诊断。两种方法均为阳性的患者往往更年轻，肿瘤更大。尽管如此，在短期和中期随访中，临床结果并无差异。
RT-PCR 和 FISH 检测 FUS-CREB3L2 融合转录本是确认 LGFMS 诊断的有用工具，但对预测中期临床结果没有作用。由于存在晚期复发或转移的倾向，广泛切除是必要的，需要进行更长期的随访。这可能会发现易位阳性和阴性患者在长期临床结果方面的差异。
