脊髓内H3K27M突变型胶质瘤1例报告并文献复习

H3K27M mutant gliomas in spinal cord(a case report and literature review)

目的探讨弥漫性中线胶质瘤伴H3K27M突变的临床表现、影像学、病理及免疫组化特点。方法回顾分析1例脊髓内H3K27M突变型弥漫性中线胶质瘤患者的临床资料,并对相关文献进行复习。结果本例患者女性,15岁,临床表现为发热、头痛、恶心呕吐及颈肩、背部疼痛、右下肢感觉障碍;初步诊断疑似椎管内炎性肉芽肿,经抗感染治疗2周无效。MRI检查示,胸10-12脊髓内片状长T1长T2信号影,长径约3.2 cm,增强扫描呈明显环形强化。行手术切除病变。术后病理检查示,病变组织形态学表现多样,主要表现为多量星形细胞瘤样或少突胶质细胞瘤样细胞,免疫组化示H3K27M(+++),符合脊髓内H3K27M突变型弥漫性中线胶质瘤的诊断。结论H3K27M突变型弥漫性中线胶质瘤好发于中线区域,多见于儿童及青少年,恶性程度高,预后差。其诊断需结合肿瘤生长部位、影像学特点、组织形态学表现及免疫组化进行综合判断;治疗方案与其他胶质瘤相同,即手术切除辅助放化疗。

Objective To investigate the clinical manifestations,imaging,clinicopathological,immunohistochemical features of diffuse midline gliomas with histone H3K27M mutation.Methods The clinical data of a patient with H3K27M mutant diffuse midline glioma in spinal cord were analyzed retrospectively,and the relevant literature was reviewed.Results A 15-year-old female presented with fever,headache,nausea,vomiting,neck,shoulder,back pain and sensory disturbance of the right lower limb.The suspected inflammatory granuloma in spinal canal was ineffective after 2 weeks of anti infective treatment.MRI showed patchy long T1 and long T2 signal shadow in the thoracic 10-12 spinal cord,with a length and diameter of about 3.2 cm.The enhanced scan showed obvious circular enhancement.Surgical resection was performed.Postoperative pathological examination showed that the histopathological manifestations of the lesions were diverse,mainly a large number of astrocytoma like or oligodendroglioma like cells.Immunohistochemistry showed H3K27M(+++),which was consistent with the diagnosis of H3K27M mutant diffuse midline glioma in the spinal cord.Conclusion H3K27M mutant diffuse midline gliomas tend to occur in the midline region,mostly in children and adolescents,with high malignancy and poor prognosis.The diagnosis should be combined with tumor growth site,imaging characteristics,histomorphology and immunohistochemistry.The treatment scheme is the same as that of other gliomas,that is,surgical resection and adjuvant radiotherapy and chemotherapy.