AUTHOR=Wang Yuan , Feng Lan-lan , Ji Pei-gang , Liu Jing-hui , Guo Shao-chun , Zhai Yu-long , Sankey Eric W. , Wang Yue , Xue Yan-rong , Wang Na , Lou Miao , Xu Meng , Chao Min , Gao Guo-Dong , Qu Yan , Gong Li , Wang Liang 

TITLE=Clinical Features and Molecular Markers on Diffuse Midline Gliomas With H3K27M Mutations: A 43 Cases Retrospective Cohort Study

JOURNAL=Frontiers in Oncology

VOLUME=Volume 10 - 2020

YEAR=2021

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2020.602553

DOI=10.3389/fonc.2020.602553

ISSN=2234-943X

ABSTRACT=Purpose: Diffuse midline gliomas (DMG) with H3K27M mutations have been identified as a rare distinctive entity with unique genetic features, varied molecular alterations, and poor prognosis. The current study aimed to evaluate the clinical characteristics and profile of molecular markers on patients with a DMG harboring H3K27M mutations, and explore the impact of this genetic makeup on overall survival. 
Methods: We retrospectively analyzed 43 consecutive patients diagnosed with a DMG harboring H3K27M mutations (age range 3 to 75 years) and treated in a tertiary institution within China between Jan 2017 to Dec 2019. Various clinical and molecular factors were evaluated to assess their prognostic value in this unique patient cohort.
Results: The median overall survival (OS) was 12.83 months. Preoperative Karnofsky Performance Score (KPS) and adjuvant radiotherapy were found to be independent clinical parameters influencing the OS by multivariate analysis (p=0.027 and p<0.001 respectively). Whereas extent of tumor resection failed to demonstrate statistical significance. For molecular markers, P53 overexpression was identified as a negative prognostic factor for overall survival by multivariate analysis (p=0.030). 
Conclusion: Low preoperative KPS, absence of radiotherapy and P53 overexpression were identified as predictors of a dismal overall survival in patients with DMG and H3K27M mutations.