粘液样脂肪肉瘤
脂肪肉瘤
融合基因
病理
杂合子丢失
未分化多形性肉瘤
医学
染色体易位
放射治疗
基因重排
生物
软组织肉瘤
肉瘤
基因
内科学
遗传学
等位基因
作者
Yanying Shen,Ling Zhao,Anqi Li,Peng Qi,Qiang Liu,Lisha Wang,Zebing Liu
标识
DOI:10.1136/jcp-2023-209223
摘要
We report a case of a middle-aged woman with a rapidly growing abdominal mass that was diagnosed as myxoid pleomorphic liposarcoma, a recently recognised, rare and aggressive subtype of liposarcoma. The tumour exhibits a combination of histological features from both myxoid liposarcoma and pleomorphic liposarcoma. Genetic analysis revealed mutations in TP53 and RB1, along with widespread loss of heterozygosity. However, no DDIT3 gene translocation or MDM2/CDK4 gene amplification was detected. These genetic characteristics can be used to distinguish this type of liposarcoma from others. Two unusual gene fusion/rearrangements,
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