Jasso Merari, Zhu Jay-Jiguang, Bhattacharjee Meenakshi B, Hergenroeder Georgene W
The Vivian L. Smith Department of Neurosurgery, McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, TX, United States.
Department of Pathology & Laboratory Medicine, McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, TX, United States.
Front Oncol. 2025 Mar 20;15:1477978. doi: 10.3389/fonc.2025.1477978. eCollection 2025.
H3 K27-Altered Diffuse Midline Gliomas are commonly found in children and adolescents in midline locations such as the thalamus, brain stem, and spinal cord. It is rare for these tumors to affect adults and to occur in locations like the lateral ventricles. Despite aggressive treatment methodologies, there is no cure for this disease. The median survival is between 8-12 months. A 24-year-old white male presented to the emergency department due to severe headache refractory to pain medications with a 2-month history of progressive headaches and eventual memory problems. Computed tomography (CT) and magnetic resonance imaging (MRI) showed an intraventricular enhancing mass and hydrocephalus. The final diagnosis was an intraventricular H3 K27-Altered Diffuse Midline Glioma. The patient underwent two craniotomies, one laser interstitial thermal ablation (LITT), chemoradiotherapy, and bevacizumab and ONC206, through compassionate use. Despite a reduction in the tumor size, it continued to spread to other brain areas, leading to further complications and, eventually, his death, 10 months after initial diagnosis. From review of the literature, 21 cases were identified, and the median age was 24. Their median survival is 10.5 months (ranges 1 - 24 months). This case report presents the clinical, radiological, pathological, and molecular characteristics of a 24-year-old white man diagnosed with a ventricular H3 K27-Altered diffuse midline glioma, highlighting the rare presentation, management, and outcomes.
H3 K27改变的弥漫性中线胶质瘤常见于儿童和青少年的中线部位,如丘脑、脑干和脊髓。这些肿瘤很少影响成年人,也很少发生在侧脑室等部位。尽管采用了积极的治疗方法,但这种疾病仍无法治愈。中位生存期在8至12个月之间。一名24岁的白人男性因严重头痛,止痛药治疗无效,前来急诊科就诊,有2个月的进行性头痛病史,最终出现记忆问题。计算机断层扫描(CT)和磁共振成像(MRI)显示脑室内有强化肿块和脑积水。最终诊断为脑室内H3 K27改变的弥漫性中线胶质瘤。患者接受了两次开颅手术、一次激光间质热消融(LITT)、放化疗,并通过同情用药使用了贝伐单抗和ONC206。尽管肿瘤大小有所缩小,但它继续扩散到其他脑区,导致进一步的并发症,最终在初次诊断后10个月死亡。通过文献回顾,共识别出21例病例,中位年龄为24岁。他们的中位生存期为10.5个月(范围为1至24个月)。本病例报告展示了一名24岁白人男性被诊断为脑室H3 K27改变的弥漫性中线胶质瘤的临床、放射学、病理学和分子特征,突出了这种罕见病例的表现、治疗及预后情况。