一例H3 G34突变的儿童弥漫性半球胶质瘤病例报道及文献复习

Pediatric diffuse hemispheric glioma,H3 G34-mutant(report of a rare case and literature review)

H3 G34突变的儿童弥漫性半球胶质瘤(Diffuse Hemispheric Glioma,DHG)是一种以组蛋白H3 G34基因突变为主要特征的高级别胶质瘤,临床罕见,预后不佳,且由于缺乏典型影像学表现,早期极易误诊。该亚型以手术治疗为主,尚无统一的放化疗方案。本文报道一例癫痫起病的左侧颞叶胶质瘤患儿,经手术全切肿瘤,术后病理证实为H3 G34突变的弥漫性半球胶质瘤。患儿术后恢复良好,随访6个月未见复发。

The pediatric diffuse hemispheric glioma,H3 G34-mutant,is a type of high grade glioma characterized by histone H3 G34 gene mutation.Cases of this subtype are very rare and have poor prognosis.The imaging examination has no characteristic features which means it's very easy to misdiagnose in the early stage.Surgery is recommended for the treatment while there remains no standard chemoradiotherapy regimen.Here we present a boy with a lesion in the left temporal lobe who suffered from seizures.The tumor was completely removed after surgery and the following pathology confirmed that it was diffuse hemispheric glioma,H3 G34 mutant.The boy recovered well after the operation,and no recurrence was found after 6 months of follow-up.