Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Department of Clinical Epidemiology and Trial Organisation, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Tumori. 2023 Jun;109(3):269-275. doi: 10.1177/03008916221099067. Epub 2022 Jun 16.
The H3K27M-mutant diffuse midline glioma (DMG) was first included in the World Health Organization (WHO) Classification of central nervous system (CNS) tumors in 2016, and confirmed in its fifth edition. The biological behavior and dismal prognosis of this tumor resemble diffuse intrinsic pontine gliomas (DIPG). Homogeneously-treated series are rarely reported.
From 2016 onwards, we treated patients with DMG with radiotherapy and concomitant/adjuvant nimotuzumab/vinorelbine, plus re-irradiation at relapse, as already done for DIPG.
We treated nine patients, seven females, with a median age at diagnosis of 13 years. Tumor sites were: thalamic in five cases, pontocerebellar in two, pineal in one, and paratrigonal with nodular/leptomeningeal dissemination in one. Three patients were biopsied, and six had partial tumor resections. Central pathological review was always performed. The median time to local progression was 12.7 months, and the median overall survival was 17.8 months. Six patients died of tumor progression, one of cerebral bleeding at progression. Two were alive, one in continuous remission, the other after relapsing, at 38.6 and 46.3 months after diagnosis. Progression-free survival was 33.3% at one year. Overall survival was 88.9%, 33.3% and 22.2% at 1, 2 and 3 years, respectively.
This is a small series of homogeneously-treated DMG patients. The results obtained are comparable with those of DIPG patients. Given the phenotypically- and molecularly-defined setting of DMG and severe outcome in this orphan population, they should be treated and included in registries and protocols of DIPG.
H3K27M 突变弥漫性中线神经胶质瘤(DMG)于 2016 年首次被纳入世界卫生组织(WHO)中枢神经系统(CNS)肿瘤分类,并在其第五版中得到确认。该肿瘤的生物学行为和预后极差,与弥漫性内在脑桥神经胶质瘤(DIPG)相似。很少有同质治疗的系列报道。
自 2016 年以来,我们采用放疗联合尼莫单抗/长春瑞滨同期/辅助治疗,并在复发时进行再放疗,用于治疗 DIPG。
我们治疗了 9 名患者,7 名女性,中位诊断年龄为 13 岁。肿瘤部位为:5 例丘脑、2 例桥脑小脑、1 例松果体、1 例旁三角区伴结节性/软脑膜播散。3 例患者进行了活检,6 例行部分肿瘤切除术。始终进行中心病理复查。局部进展的中位时间为 12.7 个月,总生存期的中位时间为 17.8 个月。6 例患者因肿瘤进展死亡,1 例在进展时死于脑出血。2 例患者存活,1 例持续缓解,另 1 例在诊断后 38.6 个月和 46.3 个月复发。1 年无进展生存率为 33.3%。总生存率分别为 88.9%、33.3%和 22.2%,1、2 和 3 年。
这是一组同质治疗的 DMG 患者的小系列研究。所获得的结果与 DIPG 患者的结果相当。鉴于 DMG 的表型和分子定义以及该罕见患者群体的严重结局,应将其进行治疗并纳入 DIPG 的登记和方案中。