Genomic profiling and prognostic factors of H3 K27M-mutant spinal cord diffuse glioma

Letter Clinical Neurology

Deciphering the genetic and epigenetic landscape of pediatric bithalamic tumors

Arnault Tauziede-Espariat et al.

Summary: Accurate diagnosis of pediatric bithalamic gliomas requires a comprehensive neuropathological review, including immunohistochemistry, genetic, and epigenetic analyses.

BRAIN PATHOLOGY (2022)

添加到收藏夹

Article Pathology

Histological and immunohistochemical features and genetic alterations in the malignant progression of giant cell tumor of bone: a possible association with TP53 mutation and loss of H3K27 trimethylation

Shin Ishihara et al.

Summary: This study aimed to elucidate the clinicopathologic and molecular features of malignant giant cell tumors of bone (MGCTBs) through immunohistochemistry, fluorescence in situ hybridization (FISH) and next generation sequencing (NGS). The results suggested that p53 alteration and dysfunction of histone methylation as evidenced by H3K27me3 loss may play an important role in the malignant progression of GCTB. The combined histologic, immunohistochemical and molecular information may be helpful for the diagnosis of challenging cases.

MODERN PATHOLOGY (2022)

添加到收藏夹

Article Clinical Neurology

Clinical outcomes and a therapeutic indication of intramedullary spinal cord astrocytoma

Narihito Nagoshi et al.

Summary: This study aimed to evaluate the impact of treatment for intramedullary astrocytoma on neurological function and overall survival rate. Results showed that as the pathological grade increased, the overall survival rate decreased; for low-grade astrocytomas, gross total resection was associated with higher overall survival rates.

SPINAL CORD (2022)

添加到收藏夹

Review Clinical Neurology

Recent Molecular and Genetic Findings in Intramedullary Spinal Cord Tumors

Yoshitaka Nagashima et al.

Summary: The study of genetic alterations and molecular biology in CNS tumors has greatly improved prognosis estimation and tumor categorization. The updated 2021 WHO classification includes diagnostic genes, molecules, pathways, and histological findings, which can be used for diagnosis and the development of targeted therapies. Intramedullary spinal cord tumors are rare and challenging to treat, but their genetic characteristics are gradually being revealed. This review describes the major changes in the new 2021 WHO classification and provides an overview of the clinical features and genetic alterations of intramedullary spinal cord tumors.

NEUROSPINE (2022)

添加到收藏夹

Article Genetics & Heredity

The landscape of tumor cell states and spatial organization in H3-K27M mutant diffuse midline glioma across age and location

Ilon Liu et al.

Summary: By analyzing the single-cell transcriptomics, epigenomics, and spatial architectures of a comprehensive cohort of H3-K27M DMGs, this study reveals the heterogeneity of these mutations at different ages and midline locations. The findings also provide insights into the cell-intrinsic and -extrinsic features of these tumors in relation to age and anatomical location, which can be used for rational modeling and therapeutic interventions.

NATURE GENETICS (2022)

添加到收藏夹

Article Genetics & Heredity

K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas

Selin Jessa et al.

Summary: This study provides an integrated analysis of 116 tumors and shows that K27M-mutant gliomas maintain chromatin configuration consistent with the cell of origin. Different types of K27M-mutant gliomas have different cell origins and molecular profiles.

NATURE GENETICS (2022)

添加到收藏夹

Editorial Material Clinical Neurology

The WHO classification of tumors of the central nervous system-finally here, and welcome!

Fausto J. Rodriguez

BRAIN PATHOLOGY (2022)

添加到收藏夹

Review Clinical Neurology

Clinical implications of the 2021 edition of the WHO classification of central nervous system tumours

Craig Horbinski et al.

Summary: The fifth edition of the WHO classification of CNS tumours, published in 2021, incorporates major changes in the classification system. This new edition includes more molecular alterations in tumor diagnosis and reorganizes the classification of gliomas and ependymomas. Several new tumor entities, especially pediatric tumors, are added to the 2021 classification. This significant revision will have a major impact on the diagnosis and treatment of CNS tumors.

NATURE REVIEWS NEUROLOGY (2022)

添加到收藏夹

Article Clinical Neurology

Oncohistone interactome profiling uncovers contrasting oncogenic mechanisms and identifies potential therapeutic targets in high grade glioma

Robert Siddaway et al.

Summary: Histone H3 mutations at amino acids 27 (H3K27M) and 34 (H3G34R) drive pediatric-type high-grade glioma (pHGG) by disrupting chromatin modifications and altering cellular processes. H3K9 methylation plays a crucial role in regulating the effects of these mutations and could be a potential therapeutic target.

ACTA NEUROPATHOLOGICA (2022)

添加到收藏夹

Article Oncology

Epigenome Programming by H3.3K27M Mutation Creates a Dependence of Pediatric Glioma on SMARCA4

Yan Mo et al.

Summary: The catalytic subunit of the SWI/SNF chromatin remodeling complex, SMARCA4, is essential for the proliferation and growth of diffuse midline gliomas with H3K27M mutation. This discovery provides a potential therapeutic approach to this deadly pediatric glioma.

CANCER DISCOVERY (2022)

添加到收藏夹

Article Oncology

Surgical treatment and neurological outcome of infiltrating intramedullary astrocytoma WHO II-IV: a multicenter retrospective case series

Vicki M. Butenschoen et al.

Summary: Primary malignant spinal astrocytomas are rare entities with limited median survival and rapid neurological deterioration. Surgical approach should focus on obtaining histological tissue via a biopsy or tumor debulking in cases with rapidly progressive severe preoperative deficits.

JOURNAL OF NEURO-ONCOLOGY (2021)

添加到收藏夹

Review Oncology

Clinical practice guidelines for the management of adult diffuse gliomas

Tao Jiang et al.

Summary: The joint guideline committee of Chinese Glioma Cooperative Group, Society for Neuro-Oncology of China, and Chinese Brain Cancer Association has updated the clinical practice guideline to provide recommendations for the diagnosis and management of diffuse gliomas. The guidelines focus on molecular and pathological diagnostics, as well as main treatment modalities including surgery, radiotherapy, and chemotherapy. Additionally, the guidelines integrate results from clinical trials of immune therapies and target therapies as future directions.

CANCER LETTERS (2021)

添加到收藏夹

Article Oncology

DNA methylation profiling as a model for discovery and precision diagnostics in neuro-oncology

Drew Pratt et al.

Summary: In recent years, there has been a shift towards more objective and biologically-driven methods for central nervous system (CNS) tumor classification, with the integration of molecular diagnostic criteria. The use of DNA methylation profiling has significantly improved diagnostic precision, reliability, and aided in discovering new tumor types.

NEURO-ONCOLOGY (2021)

添加到收藏夹

Article Pathology

Analyses of DNA Methylation Profiling in the Diagnosis of Intramedullary Astrocytomas

Laetitia Lebrun et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2021)

添加到收藏夹

Review Oncology

The 2021 WHO Classification of Tumors of the Central Nervous System: a summary

David N. Louis et al.

Summary: The fifth edition of the WHO Classification of Tumors of the Central Nervous System integrates molecular diagnostics into CNS tumor classification, introduces different approaches to tumor nomenclature and grading, and emphasizes the importance of integrated diagnoses and layered reports.

NEURO-ONCOLOGY (2021)

添加到收藏夹

Editorial Material Oncology

The 2021 WHO Classification of Tumors of the Central Nervous System: clinical implications

Patrick Y. Wen et al.

NEURO-ONCOLOGY (2021)

添加到收藏夹

Article Clinical Neurology

Spinal Cord Diffuse Midline Gliomas With H3 K27m-Mutant: Clinicopathological Features and Prognosis

Yong-Zhi Wang et al.

Summary: The study analyzed 44 patients with spinal cord DMG and found that patients with lower histological grade were older and had longer overall survival. All 30 tested tumors were IDH wild type, and 96% of cases presented with unmethylated O-6-methylguanine-DNA methyltransferase.

NEUROSURGERY (2021)

添加到收藏夹

Article Oncology

Predictive value of MGMT promoter methylation on the survival of TMZ treated IDH-mutant glioblastoma

Ruichao Chai et al.

Summary: The study investigated the role of MGMT promoter methylation in IDH-mutant glioblastoma, finding it to have predictive value with a cutoff value higher than that for IDH-wildtype glioblastoma.

CANCER BIOLOGY & MEDICINE (2021)

添加到收藏夹

Article Neurosciences