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四例高分化和去分化脂肪肉瘤中巨大环状或棒状标记染色体的细胞基因组特征分析

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

作者信息

Chai Hongyan, Xu Fang, DiAdamo Autumn, Grommisch Brittany, Mao Huanzhi, Li Peining

机构信息

Department of Genetics, Yale University School of Medicine, New Haven 06520, CT, USA.

Prevention Genetics, Marshfield 54449, WI, USA.

出版信息

Case Rep Genet. 2022 Apr 12;2022:6341207. doi: 10.1155/2022/6341207. eCollection 2022.

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.

摘要

对两例高分化脂肪肉瘤(WDLPS)和两例去分化脂肪肉瘤(DDLPS)进行了染色体和阵列比较基因组杂交(aCGH)分析。结果显示,所有四例病例均出现特征性的巨大环状(GR)或巨大棒状标记(GRM)染色体,三例病例中存在涉及12q14.1q15核心区段和其他染色体区域的大量体细胞拷贝数改变(SCNAs)扩增。应明确核心区段或其他SCNAs上癌基因OS9、CDK4、HMGA2、NUP107、MDM2、YEATS4和FRS2的扩增水平,以促进病理相关性分析和预后预测。针对影响细胞类型特异性基因调控的染色体混合区域的初始细胞危机事件的进一步研究,可能揭示WDLPS和DDLPS中GR和GRM的潜在诱变机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f707/9018199/57af179cee88/CRIG2022-6341207.001.jpg

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