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具有血管瘤样特征的上皮样肉瘤的细胞遗传学发现。病例报告。

Cytogenetic findings in an epithelioid sarcoma with angiomatoid features. A case report.

作者信息

Brassesco M S, Valera E T, Castro-Gamero A M, Moreno D A, Silveira T P, Mori B M, Engel E E, Scrideli C A, Tone L G

机构信息

Departamento de Puericultura e Pediatria, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil.

出版信息

Genet Mol Res. 2009 Oct 6;8(4):1211-7. doi: 10.4238/vol8-4gmr656.

Abstract

Epithelioid sarcoma is a rare, aggressive soft tissue tumor of unknown histogenesis showing predominantly epithelioid cytomorphology. We conducted a conventional and molecular cytogenetic study of a 27-year-old male with epithelioid sarcoma with angiomatoid features. Cytogenetic analysis of epithelioid sarcoma metaphase spreads by GTG-banding revealed a diploid chromosome complement with structural and numerical aberrations. Comparative genomic hybridization analysis demonstrated the amplification of 3p24-pter, 4p15.2-p16 and 18q23, while chromosome losses involved 3p13-p14, 3q24-q26.1, 9q21, and 11q21. Fluorescence in situ hybridization assessment showed normal hybridization patterns for the C-MYC and CCND1 loci; CCND1 RNA overexpression was detected by real-time polymerase chain reaction analysis. Genetic evaluation of this rare condition may be useful in determining if epithelioid sarcoma is associated with a distinct genetic background.

摘要

上皮样肉瘤是一种罕见的、具有侵袭性的软组织肿瘤,组织发生不明,主要表现为上皮样细胞形态。我们对一名患有血管样型上皮样肉瘤的27岁男性进行了传统和分子细胞遗传学研究。通过GTG显带对上皮样肉瘤中期分裂相进行细胞遗传学分析,发现其二倍体染色体组伴有结构和数目异常。比较基因组杂交分析显示3p24-pter、4p15.2-p16和18q23扩增,而染色体缺失涉及3p13-p14、3q24-q26.1、9q21和11q21。荧光原位杂交评估显示C-MYC和CCND1基因座的杂交模式正常;通过实时聚合酶链反应分析检测到CCND1 RNA过表达。对这种罕见疾病的基因评估可能有助于确定上皮样肉瘤是否与独特的遗传背景相关。

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