重组KDM2B软组织肉瘤扩大了BCOR相关肉瘤的概念
Toru Motoi1, Makoto Hirata2, Yoji Kukita3
1Department of Pathology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
概括
新的KDM2B重组软组织肉瘤被确定为BCOR相关肉瘤家族的一部分. KDM2B免疫组织化学表明,作为这些BCOR相关的肉瘤的诊断工具具有前途.
科学领域:
- 在瘤学瘤学.
- 分子病理学分子病理学
- 遗传学 是一个遗传学.
背景情况:
- 与BCOR相关的瘤是一种被公认的瘤群,由特定的遗传变异来定义.
- 这些瘤表现出特有的组织学和分子特征,包括BCOR和SATB2过度表达.
研究的目的:
- 为了识别和表征KDM2B融合的软组织肉瘤.
- 为了确定这些KDM2B重组的肉瘤是否属于BCOR相关的肉瘤家族.
主要方法:
- 有针对性的RNA测序,以识别基因融合.
- 逆转录PCR,桑格测序和实地杂交用于验证.
- 全基因组DNA甲基化分析和复制号分析.
- 瘤样本上的KDM2B免疫组织化学.
主要成果:
- 确定了三个具有KDM2B融合的软组织肉瘤 (KDM2B::NUTM2B,KDM2B::CREBBP,KDM2B::DUX4).
- 这些瘤在表型和表观遗传上与BCOR相关的瘤相匹配.
- KDM2B免疫组织化学在KDM2B重新排列的瘤和BCOR相关的瘤中表现强烈,使其与其他瘤区别开来.
结论:
- 建议KDM2B重新排列的软组织肉瘤是BCOR相关肉瘤家族的一部分,扩大其分子谱.
- 在多镇压复合体1.1中KDM2B和BCOR之间的分子关系可以解释这种关联.
- KDM2B免疫组织化学是BCOR相关的肉瘤的有价值的诊断标记,包括那些有KDM2B重组的肉瘤.
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