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首页> 外文期刊>Genetics research international >Cytogenetics and Molecular Genetics of Myxoid Soft-Tissue Sarcomas
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Cytogenetics and Molecular Genetics of Myxoid Soft-Tissue Sarcomas

机译：粘液样软组织肉瘤的细胞遗传学和分子遗传学

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Myxoid soft-tissue sarcomas represent a heterogeneous group of mesenchymal tumors characterized by a predominantly myxoid matrix, including myxoid liposarcoma (MLS), low-grade fibromyxoid sarcoma (LGFMS), extraskeletal myxoid chondrosarcoma (EMC), myxofibrosarcoma, myxoinflammatory fibroblastic sarcoma (MIFS), and myxoid dermatofibrosarcoma protuberans (DFSP). Cytogenetic and molecular genetic analyses have shown that many of these sarcomas are characterized by recurrent chromosomal translocations resulting in highly specific fusion genes (e.g.,FUS-DDIT3in MLS,FUS-CREB3L2in LGFMS,EWSR1-NR4A3in EMC, andCOL1A1-PDGFBin myxoid DFSP). Moreover, recent molecular analysis has demonstrated a translocationt(1; 10)(p22; q24) resulting in transcriptional upregulation ofFGF8andNPM3in MIFS. Most recently, the presence ofTGFBR3andMGEA5rearrangements has been identified in a subset of MIFS. These genetic alterations can be utilized as an adjunct in diagnostically challenging cases. In contrast, most myxofibrosarcomas have complex karyotypes lacking specific genetic alterations. This paper focuses on the cytogenetic and molecular genetic findings of myxoid soft-tissue sarcomas as well as their clinicopathological characteristics.
机译：黏液样软组织肉瘤代表一组异质性间充质瘤，其特征是主要为黏液样基质，包括黏液样脂肪肉瘤（MLS），低度纤维黏液样肉瘤（LGFMS），骨骼外黏液样软骨肉瘤（EMC），粘液性纤维肉瘤（和粘液样皮肤纤维肉瘤（DFSP）。细胞遗传学和分子遗传学分析表明，许多肉瘤的特征是反复发生染色体易位，从而产生高度特异性的融合基因（例如，MLS中的FUS-DDIT3，LGFMS中的FUS-CREB3L2，EMC中的EWSR1-NR4A3和粘胶状体DFSP中的COL1A1-PDGFB）。此外，最近的分子分析表明易位t（1; 10）（p22; q24）导致MIFS中FGF8和NPM3的转录上调。最近，已经在MIFS的子集中发现了TGFBR3和MGEA5重排的存在。这些遗传变异可作为诊断困难的病例的辅助手段。相反，大多数粘液原纤维肉瘤具有复杂的核型，缺乏特定的遗传改变。本文重点研究了类胶质软组织肉瘤的细胞遗传学和分子遗传学发现及其临床病理特征。

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