美国达纳法伯\/波士顿儿童癌症和血液疾病中心Mariella G. Filbin研究组取得一项新突破。他们利用单细胞RNA-Seq揭示了小儿室管膜瘤的细胞层级和损伤的发展过程。2020年7月13日，国际学术期刊《癌细胞》发表了这一成果。

研究人员利用单细胞RNA测序来分析不同分子组成和解剖位置的室管膜瘤，以研究其瘤内异质性和发育起源。室管膜瘤是由未分化的细胞类群组成，其向神经元-神经胶质命运特化的三个谱系分化受损。尽管对室管膜瘤预后有利的组主要包含分化的细胞，恶化组分主要包含未分化的细胞群。该转录组特征与患者的存活率相关，并揭示了靶向治疗的分子依赖性。综上所述，该分析揭示了与生物学和临床行为相关室管膜瘤的发展层级。

据悉，室管膜瘤是中枢神经系统肿瘤的异质性实体，其具有成熟的分子构成。

附：英文原文

Title: Single-Cell RNA-Seq Reveals Cellular Hierarchies and Impaired Developmental Trajectories in Pediatric Ependymoma

Author: Johannes Gojo, Bernhard Englinger, Li Jiang, Jens M. Hübner, McKenzie L. Shaw, Olivia A. Hack, Sibylle Madlener, Dominik Kirchhofer, Ilon Liu, Jason Pyrdol, Volker Hovestadt, Emanuele Mazzola, Nathan D. Mathewson, Maria Trissal, Daniela Ltsch, Christian Dorfer, Christine Haberler, Angela Halfmann, Lisa Mayr, Andreas Peyrl, Rene Geyeregger, Benjamin Schwalm, Monica Mauermann, Kristian W. Pajtler, Till Milde, Marni E. Shore, Jack E. Geduldig, Kristine Pelton, Thomas Czech, Orr Ashenberg, Kai W. Wucherpfennig, Orit Rozenblatt-Rosen, Sanda Alexandrescu, Keith L. Ligon, Stefan M. Pfister, Aviv Regev, Irene Slavc, Walter Berger, Mario L. Suvà, Marcel Kool, Mariella G. Filbin

Issue&Volume: 2020/07/13

Abstract: Ependymoma is a heterogeneous entity of central nervous system tumors with well-established molecular groups. Here, we apply single-cell RNA sequencing to analyze ependymomas across molecular groups and anatomic locations to investigate their intratumoral heterogeneity and developmental origins. Ependymomas are composed of a cellular hierarchy initiating from undifferentiated populations, which undergo impaired differentiation toward three lineages of neuronal-glial fate specification. While prognostically favorable groups of ependymoma predominantly harbor differentiated cells, aggressive groups are enriched for undifferentiated cell populations. The delineated transcriptomic signatures correlate with patient survival and define molecular dependencies for targeted treatment approaches. Taken together, our analyses reveal a developmental hierarchy underlying ependymomas relevant to biological and clinical behavior.

DOI: 10.1016/j.ccell.2020.06.004

Source: https://www.cell.com/cancer-cell/fulltext/S1535-6108(20)30308-1