成人弥漫性中线胶质瘤精准治疗一例

Precision treatment exploration in a patient with diffuse midline glioma

目的探索弥漫性中线胶质瘤,H3 K27M突变型,WHOⅣ级的新型治疗方法。方法与结果女性患者,51岁,病理确诊为弥漫性(左侧额叶、丘脑)中线胶质瘤,H3 K27M突变型。于手术切除左侧额叶病灶后,经多学科诊疗模式讨论,采取替莫唑胺超早期START化疗方案,治疗3周后头部MRI显示左侧丘脑病灶进展;然后针对颅内病灶行适形调强放射治疗联合依托泊苷(VP⁃16)节律化疗,根据全外显子组测序提示呈培唑帕尼敏感类型,遂在VP⁃16节律化疗的基础上联合培唑帕尼序贯治疗。放射治疗后3个月复查MRI提示肿瘤接近完全缓解(神经肿瘤反应评价标准)。结论通过手术切除、放射治疗、药物化疗及靶向治疗的综合治疗策略可以改善弥漫性中线胶质瘤,H3 K27M突变型患者生存期,但仍需进一步随访观察。

Objective To explore new treatment methods for diffuse midline glioma(DMG),H3 K27M mutant,WHOⅣgrade.Methods A 51 years old female patient was diagnosed as DMG,H3 K27M mutant.After resection of the left frontal lobe lesion,we decided to use temozolomide super early chemotherapy treatment named START after multi⁃disciplinary team(MDT)discussion.After chemotherapy 3 weeks head MRI examination showed the lesion of tumor in the left thalamus had developed.Then conformal intensity⁃modulated radiotherapy combined with etoposide(VP⁃16)rhythm chemotherapy was performed for intracranial lesions.The detection of whole exome sequencing(WES)indicated that the patient was sensitive to pazopanib,therefore,treatment of etoposide combined with pazopanib was carried out.Results Three months after radiotherapy,the reexamination showed that the tumor nearly achieved complete remission(CR,RANO standard).Conclusions The comprehensive treatment strategy of surgery,radiotherapy,chemotherapy and targeted therapy can improve the survival of DMG,H3 K27M mutant patients,which needs further follow⁃up observation.