H3K27M突变型弥漫性中线胶质瘤（diffuse midline glioma，DMG）是WHO中枢神经系统（CNS）恶性肿瘤分类2016年版中新增的脑肿瘤。 DMG发生于脊髓、脑干、松果体区和丘脑；临床行为为侵袭性。 其独特分类是由于组蛋白变体HIST1H3B（H3.1）或H3F3A（H3.3）中第27位赖氨酸到蛋氨酸置换引起错义突变的结果。 该突变导致独特的相对同质表型，具有重要的遗传、表观遗传和临床意义，不同于野生型DMG和其它非中线高级别胶质瘤（high grade …

As recently reported, H3 K27M-mutant gliomas can display a broad spectrum of histological features, including giant, epithelioid, and rhabdoid cells; primitive neuroectodermal tumor–like foci; ependymal-like areas; sarcomatous transformation, as well as features that may wrongly suggest circumscribed gliomas such as neuropil-like islands ...

2022年11月21日 · Here, through dissecting the single-cell transcriptomic, epigenomic and spatial architectures of a comprehensive cohort of patient H3-K27M DMGs, we delineate how age and anatomical location shape...

2022年4月14日 · WHO 2021 definition: diffuse midline glioma, H3 K27-altered, is an infiltrative midline glioma with loss of H3 p.K28me3 (K27me3) and usually, either an H3 c.83A>T p.K28M (K27M) substitution in one of the histone H3 isoforms (H3.1, H3.2 or H3.3), aberrant overexpression of EZHIP or an EGFR mutation (CNS WHO grade 4)

2018年4月10日 · 最新研究发现，组蛋白h3.3特定位点的突变h3k27m导致氨基酸的改变与中线结构胶质瘤发生密切相关，且具有明显弥漫性生长的特点，恶性程度高。

2023年9月21日 · Substitution of lysine 27 to methionine in histone H3 (H3K27M) defines an aggressive subtype of diffuse glioma. Previous studies have shown that a H3K27M-specific long peptide vaccine...

In this chapter, we will review and summarize recent studies on the H3K27M-driven tumorigenic mechanisms and properties and the role of H3.1K27M and H3.3K27M oncohistones in brain tumors.

Diffuse midline glioma, H3 K27-altered (DMG-H3 K27) is an aggressive group of diffuse gliomas that predominantly occurs in pediatric patients, involves midline structures, and displays loss of H3 p.K28me3 (K27me3) expression by immunohistochemistry and characteristic genetic/epigenetic profile.

2025年1月20日 · We show that patient-derived H3.3 K27M tumor cells have decreased mitotic Ser31 phosphorylation and increased frequency of chromosome missegregation. CRISPR reversion of the K27M mutation to wild type (WT) restores phospho-Ser31 levels and results in a decrease in chromosome missegregation.

近日，Adrian P. Bracken研究组、Gerard L. Brien以及Steven M. Pollard研究组在《 Nature Genetics 》在线发表了一篇题为“Simultaneous disruption of PRC2 and enhancer function underlies histone H3.3-K27M oncogenic activity in human hindbrain neural stem cells”的研究论文，揭开在人类后脑神经干细胞中同时 ...