Abstract
PurposeDiffuse 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.MethodsWe 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 January 2017 to December 2019. Various clinical and molecular factors were evaluated to assess their prognostic value in this unique patient cohort.ResultsThe 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).ConclusionLow preoperative KPS, absence of radiotherapy and P53 overexpression were identified as predictors of a dismal overall survival in patients with DMG and H3K27M mutations.
Highlights
Diffuse midline glioma (DMG) with histone H3K27M mutation is a novel entity that was added to the 2016 World Health Organization (WHO) classification of tumors of the Central Nervous System (CNS), on the principle of integrated diagnosis with combinations of characteristics from both histological and molecular aspects [1, 2]
Preoperative Karnofsky Performance Score (KPS) and adjuvant radiotherapy were found to be independent clinical parameters influencing the overall survival (OS) by multivariate analysis (p = 0.027 and p < 0.001 respectively)
We retrospectively explored the clinical and molecular characteristics of 43 patients who were diagnosed with a DMG with H3K27M mutation between January 2017 and December 2019 at our institution
Summary
Diffuse midline glioma (DMG) with histone H3K27M mutation is a novel entity that was added to the 2016 World Health Organization (WHO) classification of tumors of the Central Nervous System (CNS), on the principle of integrated diagnosis with combinations of characteristics from both histological and molecular aspects [1, 2]. In accordance to the diagnostic criteria outlined by the WHO, DMG with H3K27M mutations have a diffuse growth pattern and are restricted to the midline structures, such as the thalamus, brainstem, cerebellum and spinal cord [4] These tumors are most frequently observed in the pediatric population, but adults are commonly affected [5]. As such, limited surgical outcomes data has been reported and further investigation of relevant molecular markers and associated genetic alterations is still needed
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