Introduction: Diffuse midline glioma with H3 K27M mutation is a new tumor entity from 2016 which is highly aggressive and classified as a WHO Grade IV tumor regardless of histopathologic features. DMG is an aggressive tumor with a poor prognosis, predominating in children and rarely in adults. The clinicopathologic features in adults remain poorly characterized.
Case Presentation: Herein we report a case of a 28-year-old female with diffuse midline glioma with pathology confirmation of histone H3 K27M mutation presenting predominately with left upper and lower limb weakness for 3 weeks followed by an event of loss of consciousness and suspicious mass in MRI Brain/CT Brain. It was confirmed by immunoreactive H3K27M with a score of 4+ in neoplastic cells, which revealed Diffuse midline glioma, H3K27M mutant.
Clinical Discussion: Diffuse midline glioma with histone H3-K27M mutation recently classified CNS tumor with grade IV, including both morphologic and molecular features for diagnosis and associated with poor prognosis.
Conclusion: We report a case of adult diffuse midline glioma with H3K27M. The prognosis of diffuse midline glioma is poor and dependents solely on H3K27M irrespective of its grade and characteristics. A comprehensive study of diffuse midline glioma on clinical, radiographic, and demographic features in adult is needed.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9052283 | PMC |
| http://dx.doi.org/10.1016/j.amsu.2022.103567 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Ictal EEG of benign convulsion with mild gastroenteritis with in infants and children.
Brain Dev
January 2025
Department of Clinical Neuroelectrophysiology, Wuhan Children's Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:
Objective: There are fewer reports on the ictal electroencephalogram(EEG) of convulsions in infants and children with mild gastroenteritis (BCWG). Our study retrospectively analyzed the ictal EEG characteristics of convulsive episodes of BCWG.
Methods: The seizure-phase EEGs of children diagnosed with BCWG from September 2016 to January 2022 were searched and analyzed, and a total of thirteen seizure-phase EEGs of eight cases were analyzed retrospectively.
A comprehensive multicenter analysis of clinical, molecular, and imaging characteristics and outcomes of H3 K27-altered diffuse midline glioma in adults.
J Neurosurg
January 2025
2Department of Radiology, New York University Grossman School of Medicine, New York, New York.
Objective: The objective was to comprehensively investigate the clinical, molecular, and imaging characteristics and outcomes of H3 K27-altered diffuse midline glioma (DMG) in adults.
Methods: Retrospective chart and imaging reviews were performed in 111 adult patients with H3 K27-altered DMG from two tertiary institutions. Clinical, molecular, imaging, and survival characteristics were analyzed.
Diagnosis of Leptomeningeal Disease in Diffuse Midline Gliomas by Detection of H3F3A K27M Mutation in Circulating Tumor DNA of Cerebrospinal Fluid.
Pediatr Blood Cancer
January 2025
Department of Neurosurgery, Brain Research Institute, Niigata University, Niigata, Japan.
Introduction: Leptomeningeal disease (LMD) in diffuse midline gliomas (DMGs) can lead to devastating symptoms such as severe pain, urinary incontinence, and tetraparesis, with limited treatment options. We determined whether detecting H3F3A K27M-mutant droplets in cerebrospinal fluid (CSF) circulating tumor deoxyribonucleic acid (ctDNA) could be a biomarker for detecting LMD in DMGs.
Methods: Twenty-five CSF samples were obtained from 22 DMG patients.
Neuroimaging of postoperative pediatric cerebellar mutism syndrome: a systematic review.
Neurooncol Adv
December 2024
Research Department, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Background: Postoperative pediatric cerebellar mutism syndrome (ppCMS) poses serious morbidity after posterior fossa tumor surgery. Neuroimaging studies aim to understand its pathophysiology, yet these vary in methodology and outcome measures. Therefore, we systematically reviewed the current literature to evaluate the evidence for differences in neuroimaging features between children with and without ppCMS.
View Article and Find Full Text PDFMalignant Cerebral Edema After Cranioplasty: A Case Report and Literature Insights.
Am J Case Rep
January 2025
Department of Neurosurgery, Denver Health Hospital Authority, Denver, CO, USA.
BACKGROUND Decompressive craniectomy is a common life-saving intervention in the setting of elevated intracranial pressure. Cranioplasty restores the calvarium and intracranial physiology once swelling recedes. Cranioplasty is often thought of as a low-risk intervention.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!