一个不寻常的H3K27改变的扩散中间线质瘤病例,呈现为第三心室质量
Hayley Mitchel1, Trevor Huff2, Kirsten Pickard3
1Radiology, Midwestern University Arizona College of Osteopathic Medicine, Glendale, USA.
Cureus
|May 12, 2025
概括
扩散性中线质瘤 (DMG) 是一种具有攻击性的脑瘤. 本病例报告详细介绍了一种罕见的H3K27改变的DMG,在成年人中呈现异常.
科学领域:
- 神经瘤学神经瘤学
- 分子病理学分子病理学
- 中枢神经系统 (CNS) 瘤
背景情况:
- 扩散性中线质瘤 (DMGs) 是一种罕见的,有攻击性的中枢神经系统瘤,通常是儿科.
- 由于特定的基因组突变,H3K27改变的DMG是世卫组织的第四级.
- 成年人DMG呈现和进展的研究不足.
相关概念视频
Histone Variants at the Centromere
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3 variants are also...
Cardiac Catheterization III: Left Heart Catheterization
Left heart catheterization is an invasive diagnostic procedure used to evaluate the function and structure of the left side of the heart. It is generally performed to diagnose and treat cardiovascular conditions such as valve abnormalities, coronary artery disease, and congenital heart defects.Diagnostic and therapeutic purposesLeft heart catheterization serves various diagnostic and therapeutic purposes, including:Assessing coronary artery bypass grafts.Evaluating coronary artery disease in...
Mitral Stenosis II: Clinical features and Diagnostic Tests
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
Heart Failure III: Clinical Manifestations
Heart failure (HF) manifests primarily as dyspnea, fatigue, and fluid retention, resulting in peripheral and pulmonary edema. Symptoms may vary depending on which ventricle is more affected, left or right.Left-Sided Heart FailureAlso known as left ventricular failure, this condition results from the left ventricle's inability to fill or eject sufficient blood into the systemic circulation. It leads to pulmonary congestion, which occurs when the left ventricle fails to eject blood effectively...
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features
Chronic bronchitis is a key phenotype of chronic obstructive pulmonary disease (COPD), characterized by airway-centered inflammation and mucus overproduction. It develops from long-term exposure to harmful particles or gases, most commonly cigarette smoke, which triggers a persistent inflammatory response.Cellular and Structural ChangesInflammation initially affects the large bronchi and later the smaller airways, with infiltration by immune cells, including neutrophils, macrophages, and...


