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 January 2017 to December 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 ( = 0.027 and < 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 ( = 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.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7917281 | PMC |
http://dx.doi.org/10.3389/fonc.2020.602553 | DOI Listing |
Childs Nerv Syst
December 2024
Department Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
Introduction: Diffuse intrinsic pontine glioma (DIPG) in children comprises 80% of brainstem gliomas. In 2021, 5th edition of WHO CNS tumor classification defined H3K27M altered diffuse midline gliomas (DMGs) which replaced this entity. Lesion location precludes resection and the only current option available is radiotherapy.
View Article and Find Full Text PDFGenome Biol
December 2024
Department of Pathology, Stanford University, Stanford, CA, 94305, USA.
Background: The fatal diffuse midline gliomas (DMG) are characterized by an undruggable H3K27M mutation in H3.1 or H3.3.
View Article and Find Full Text PDFZh Vopr Neirokhir Im N N Burdenko
December 2024
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Unlabelled: Tumor tissue samples are necessary for histological diagnosis. Biopsy is associated with certain difficulties, especially in neuro-oncology. An alternative approach (liquid biopsy) is currently being developed.
View Article and Find Full Text PDFNPJ Precis Oncol
November 2024
Department of Neurosurgery, Huashan Hospital, Fudan University, Neurosurgical Institute of Fudan University, Shanghai, China.
Neuro Oncol
November 2024
Translational Radiation Biology and Oncology Laboratory, Centre for Cancer Research, Westmead Institute for Medical Research, NSW, Australia.
Background: Diffuse Intrinsic Pontine Gliomas (DIPG) and other H3K27M-mutated diffuse midline gliomas (DMGs) are brain tumors that primarily affect children. Radiotherapy is the standard of care but only provides temporary symptomatic relief due to radioresistance. While hypoxia is a major driver of radioresistance in other tumors, there is no definitive evidence that DIPGs are hypoxic.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!