A diagnosis of low-grade fibromyxoid sarcoma (LGFMS) remains problematic because of its bland-looking histologic features that can be potentially confused with other benign or low-grade fibromyxoid lesions. Recent cytogenetic and molecular analyses have shown that most LGFMSs have a characteristic chromosomal abnormality, t(7;16)(q33;p11), resulting in the FUS-CREB3L2 fusion gene. However, such assays have only rarely been used to analyze formalin-fixed, paraffin-embedded tumor samples. In the present study, we conducted a reverse transcription-polymerase chain reaction assay to detect the FUS-CREB3L2 fusion transcripts using formalin-fixed, paraffin-embedded tumor tissue specimens from 16 LGFMSs including 3 cases with giant collagen rosettes. The primers were newly designed to specifically amplify most of the junctional regions of the FUS-CREB3L2 fusion gene transcripts previously reported. The FUS-CREB3L2 fusion gene transcripts were detected in 14/16 (88%) cases of LGFMS. A nucleotide sequence analysis of the PCR products revealed that different portions of the FUS exon 6 or 7 were fused with various sites of the CREB3L2 exon 5, resulting in 12 different nucleotide sequences. We also tested a primer set to detect the FUS-CREB3L1 fusion transcript, which is a rare variant of the gene fusion in LGFMS, although no PCR products were identified in any case. The FUS-CREB3L2 fusion transcripts were not detected in any of the 123 other soft-tissue tumors, including desmoid-type fibromatoses, myxofibrosarcomas, soft-tissue perineuriomas, and congenital or adult fibrosarcomas. These data suggest that our reverse transcription-polymerase chain reaction assay is a reliable method to detect FUS-CREB3L2, which can thus help in accurately diagnosing LGFMS.

译文

低度纤维粘液样肉瘤 (LGFMS) 的诊断仍然存在问题,因为其外观平淡无奇的组织学特征可能与其他良性或低度纤维粘液样病变相混淆。最近的细胞遗传学和分子分析表明,大多数lgfms具有特征性的染色体异常t(7;16)(q33;p11),导致FUS-CREB3L2融合基因。然而,这种测定很少用于分析福尔马林固定的石蜡包埋的肿瘤样品。在本研究中,我们进行了逆转录聚合酶链反应分析,以使用来自16个lgfms的福尔马林固定,石蜡包埋的肿瘤组织标本 (包括3例巨大的胶原玫瑰花结) 检测FUS-CREB3L2融合转录本。新设计了引物,以特异性扩增先前报道的FUS-CREB3L2融合基因转录物的大部分连接区域。在14/16 (88%) 例LGFMS中检测到FUS-CREB3L2融合基因转录本。PCR产物的核苷酸序列分析表明,FUS外显子6或7的不同部分与CREB3L2外显子5的不同位点融合,产生12种不同的核苷酸序列。我们还测试了引物集以检测FUS-CREB3L1融合转录本,这是LGFMS中基因融合的罕见变体,尽管在任何情况下都没有鉴定出PCR产物。在123种其他软组织肿瘤中均未检测到FUS-CREB3L2的融合转录物,包括真丝样纤维瘤,粘液纤维肉瘤,软组织神经瘤和先天性或成人纤维肉瘤。这些数据表明,我们的逆转录-聚合酶链反应测定法是检测FUS-CREB3L2的可靠方法,因此可以帮助准确诊断LGFMS。

+1
+2
100研值 100研值 ¥99课程
检索文献一次
下载文献一次

去下载>

成功解锁2个技能,为你点赞

《SCI写作十大必备语法》
解决你的SCI语法难题!

技能熟练度+1

视频课《玩转文献检索》
让你成为检索达人!

恭喜完成新手挑战

手机微信扫一扫,添加好友领取

免费领《Endnote文献管理工具+教程》

微信扫码, 免费领取

手机登录

获取验证码
登录