加拿大多伦多大学病童医院Cynthia Hawkins研究组的一项最新工作，报道了1000例儿童低级别胶质瘤的分子和临床综合分析。2020年4月13日，国际知名学术期刊《癌细胞》发表了这一成果。

Title: Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas

Author: Scott Ryall, Michal Zapotocky, Kohei Fukuoka, Liana Nobre, Ana Guerreiro Stucklin, Julie Bennett, Robert Siddaway, Christopher Li, Sanja Pajovic, Anthony Arnoldo, Paul E. Kowalski, Monique Johnson, Javal Sheth, Alvaro Lassaletta, Ruth G. Tatevossian, Wilda Orisme, Ibrahim Qaddoumi, Lea F. Surrey, Marilyn M. Li, Angela J. Waanders, Stephen Gilheeney, Marc Rosenblum, Tejus Bale, Derek S. Tsang, Normand Laperriere, Abhaya Kulkarni, George M. Ibrahim, James Drake, Peter Dirks, Michael D. Taylor, James T. Rutka, Suzanne Laughlin, Manohar Shroff, Mary Shago, Lili-Naz Hazrati, Colleen DArcy, Vijay Ramaswamy, Ute Bartels, Annie Huang, Eric Bouffet, Matthias A. Karajannis, Mariarita Santi, David W. Ellison, Uri Tabori, Cynthia Hawkins

Issue&Volume: 2020/04/13

Abstract: Pediatric low-grade gliomas (pLGG) are frequently driven by genetic alterations inthe RAS-mitogen-activated protein kinase (RAS/MAPK) pathway yet show unexplained variabilityin their clinical outcome. To address this, we characterized a cohort of >1,000 clinicallyannotated pLGG. Eighty-four percent of cases harbored a driver alteration, while thosewithout an identified alteration also often exhibited upregulation of the RAS/MAPKpathway. pLGG could be broadly classified based on their alteration type. Rearrangement-driventumors were diagnosed at a younger age, enriched for WHO grade I histology, infrequentlyprogressed, and rarely resulted in death as compared with SNV-driven tumors. Furthersub-classification of clinical-molecular correlates stratified pLGG into risk categories.These data highlight the biological and clinical differences between pLGG subtypesand opens avenues for future treatment refinement.

DOI: 10.1016/j.ccell.2020.03.011

Source: https://www.cell.com/cancer-cell/fulltext/S1535-6108(20)30151-3