当前位置: X-MOL 学术Brain Tumor Pathol. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Ependymoma with C11orf95-MAML2 fusion: presenting with granular cell and ganglion cell features
Brain Tumor Pathology ( IF 3.3 ) Pub Date : 2020-11-22 , DOI: 10.1007/s10014-020-00388-6
Sho Tamai 1 , Yoshiko Nakano 2 , Masashi Kinoshita 1 , Hemragul Sabit 1 , Sumihito Nobusawa 3 , Yasuhito Arai 4 , Natsuko Hama 4 , Yasushi Totoki 4 , Tatsuhiro Shibata 4 , Koichi Ichimura 2 , Mitsutoshi Nakada 1
Affiliation  

C11orf95-RELA fusion or, less frequently, YAP1 fusion is recurrently detected in most cases of supratentorial ependymoma. Other fusions have rarely been reported in some cases of supratentorial ependymoma, and little is known about their pathological or clinical features. Here, we present a case of supratentorial ependymoma with unusual pathological findings and C11orf95-MAML2 fusion. A 23-year-old man was admitted to our hospital because of headache and vomiting. Magnetic resonance imaging revealed a cystic lesion in the right frontal lobe, and gross total resection of the tumor was performed. Pathologically, the tumor was mainly composed of typical ependymal lesions with perivascular pseudorosettes and contained some atypical lesions, with granular and ganglion cell features. The tumor was diagnosed as anaplastic ependymoma, which was classified as grade III on the World Health Organization scale, and found to be RELA fusion-positive in the DNA methylation analysis. However, the tumor was negative for C11orf95-RELA fusion, and RNA sequencing detected C11orf95-MAML2 fusion. The patient has not received adjuvant therapy and has remained alive without any evidence of disease for 30 months, suggesting that the prognosis might be better than that of typical C11orf95-RELA fusion-positive ependymoma.



中文翻译:

具有C11orf95-MAML2融合的室管膜瘤:呈现颗粒细胞和神经节细胞特征

C11orf95-RELA融合或,较不频繁地,YAP1融合反复幕上室管膜瘤的大多数情况下进行检测。在某些上上皮室间隔瘤病例中,很少有其他融合的报道,对其病理或临床特征了解甚少。在这里,我们介绍了一个病例,有异常病理发现和C11orf95-MAML2的幕上性室间隔膜瘤融合。一名23岁的男子因头痛和呕吐入院。磁共振成像显示右额叶有一个囊性病变,并进行了肿瘤的总切除。病理上,该肿瘤主要由典型的室间隔病变和血管周围假红斑组成,并包含一些非典型病变,具有颗粒和神经节细胞特征。该肿瘤被诊断为间变性性室管膜瘤,在世界卫生组织范围内被分类为III级,在DNA甲基化分析中发现RELA融合阳性。但是,该肿瘤对C11orf95-RELA融合呈阴性,并且RNA测序检测到C11orf95-MAML2融合。该患者未接受辅助治疗,并且在没有任何疾病迹象的情况下存活了30个月,这表明其预后可能好于典型的C11orf95-RELA融合阳性室间隔膜瘤。

更新日期:2020-11-22
down
wechat
bug