Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma

Hongyan Chai, Fang Xu, Autumn Diadamo, Brittany Grommisch, Huanzhi Mao, Peining Li
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引用次数: 1

Abstract

Chromosome and array comparative genomic hybridization (aCGH) analyses were performed on two cases of well-differentiated liposarcoma (WDLPS) and two cases of dedifferentiated liposarcoma (DDLPS). The results revealed the characteristic giant ring (GR) or giant rod marker (GRM) chromosomes in all four cases and amplification of numerous somatic copy number alterations (SCNAs) involving a core segment of 12q14.1q15 and other chromosomal regions in three cases. The levels of amplification for oncogenes OS9, CDK4, HMGA2, NUP107, MDM2, YEATS4, and FRS2 at the core segment or other SCNAs should be characterized to facilitate pathologic correlation and prognostic prediction. Further studies for the initial cellular crisis event affecting chromosome intermingling regions for cell-type specific gene regulation may reveal the underlying mutagenesis mechanism for GR and GRM in WDLPS and DDLPS.
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4例高分化和去分化脂肪肉瘤巨环或棒状标记染色体的细胞基因组学特征
对2例高分化脂肪肉瘤(wdlp)和2例去分化脂肪肉瘤(DDLPS)进行染色体和阵列比较基因组杂交(aCGH)分析。结果显示,所有4例患者均存在特征性的巨环(GR)或巨棒标记(GRM)染色体,3例患者存在涉及12q14.1q15核心片段和其他染色体区域的大量体细胞拷贝数改变(SCNAs)扩增。癌基因OS9、CDK4、HMGA2、NUP107、MDM2、YEATS4和FRS2在核心段或其他SCNAs上的扩增水平应被表征,以促进病理关联和预后预测。进一步研究影响染色体混杂区细胞型特异性基因调控的初始细胞危机事件,可能揭示WDLPS和DDLPS中GR和GRM的潜在诱变机制。
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