中枢神经系统红色细胞肉瘤:一种潜在的新兴儿科瘤类型,其特征是NFIA::RUNX1T1/3融合
Arnault Tauziède-Espariat1,2, Lucille Lew-Derivry3, Samuel Abbou4
1Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne Hospital, 1, rue Cabanis, 75014, Paris, France. a.tauziede-espariat@ghu-paris.fr.
Acta neuropathologica communications
|January 19, 2024
概括
红斑性肉瘤 (ES) 是一种罕见的癌症. 患有特定基因融合的儿科病例表现出影响中枢神经系统 (CNS) 的倾向,这给诊断带来了挑战.
科学领域:
- 血液学 血液学 血液学
- 在瘤学瘤学.
- 儿科病理学 儿科病理学
背景情况:
- 红斑性肉瘤 (ES),以前被称为瘤或粒细胞性肉瘤,是一种罕见的血液性瘤.
- 在成年人中,ES的特征是骨髓状弹在外骨髓位的扩散,通常涉及皮肤和软组织.
- 它可以与急性髓性白血病 (AML) 相关,也可以在不涉及骨髓的情况下出现de novo.
研究的目的:
- 报告一个小儿中枢神经系统红细胞瘤与NFIA::RUNX1T1融合的孤立病例.
- 突出了涉及中枢神经系统的儿科ES的诊断挑战和分子特征.
- 讨论儿科ES与NFIA::RUNX1T1/3融合的中枢神经系统的热带性.
主要方法:
- 一个3岁男孩的病例报告,中枢神经系统ES.ES.孤立.
- 分子表征包括NFIA::RUNX1T1融合的识别.
- 使用CD43,E-cadherin和CD117.7等标记物的免疫组织化学分析.
主要成果:
- 在儿童患者的中枢神经系统中发现了一种与NFIA::RUNX1T1融合的孤立ES.
- 瘤呈现为脑瘤,具有勒普托门传播,类似于之前报告的儿科中枢神经系统ES病例.
- 由于CD99表达导致的中枢神经系统尤宁肉瘤的诊断混被注意到,强调了特定的红状腺标记物的重要性.
结论:
- 儿科ES与NFIA::RUNX1T1/3的融合显示了中枢神经系统的热.
- 这些病例给神经病理学家带来了诊断挑战,因为标记物表达.
- 诊断依赖于识别红状腺标记物的特定转位和表达,特别是在没有循环爆发的情况下.
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