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携带 TERT 启动子突变和弥漫性 CD34 表达的 IDH 野生型组织学低级别胶质瘤的快速进展:一例报告。

Rapid progression of an IDH-wild type histological low-grade glioma harbouring TERT promoter mutation and diffuse CD34 expression: a case report.

机构信息

Department of Neurosurgery, Shanghai Changzheng Hospital, Shanghai, China.

Department of Pathology, Cancer Institute of Fudan University, Shanghai, China.

出版信息

Folia Neuropathol. 2021;59(1):104-111. doi: 10.5114/fn.2021.104471.

Abstract

IDH-wild type (WT) histological low-grade gliomas are a rare group with distinct character and prognostic heterogeneity. Studies involving genetic and molecular analyses are warranted to stratify these patients into specific entities for the facilitation of tumour management. In this study, we reported a novel IDH-WT glioma with histological characteristics of a low-grade tumour. Preoperative CT revealed massive calcification of this lesion and MRI showed a mixed hyperintense and hypointense signals on both T1- and T2-weighted images with a slight contrast enhancement. Micrography revealed dense deposits of calcium and diffuse microhaemorrhage in the tumour mass. Immunohistochemical staining showed diffuse expression of CD34 in neoplastic cells but uncertain positivity of glial fibrillary acidic protein (GFAP). Further sequencing found telomerase reverse transcriptase (TERT) promoter mutation in this tumour. Though the patient underwent surgical treatment followed by radiotherapy and temozolomide chemotherapy, the tumour recurred at the eight-month follow-up postoperatively. Taken together, extensive CD34 expression and TERT promoter mutation may empower the potential of malignant transformation to IDH-WT histological low-grade glioma to rapidly progress into glioblastoma.

摘要

IDH 野生型(WT)组织学低级别胶质瘤是一组罕见的具有独特特征和预后异质性的肿瘤。有必要进行涉及遗传和分子分析的研究,将这些患者分为特定的实体,以方便肿瘤管理。在本研究中,我们报告了一例具有低级别肿瘤组织学特征的新型 IDH-WT 胶质瘤。术前 CT 显示该病变广泛钙化,MRI 显示 T1 和 T2 加权图像上均有混合高信号和低信号,轻度对比增强。显微镜下显示肿瘤内钙沉积密集,弥漫性微出血。免疫组化染色显示肿瘤细胞中 CD34 弥漫表达,但胶质纤维酸性蛋白(GFAP)阳性不确定。进一步测序发现该肿瘤存在端粒酶逆转录酶(TERT)启动子突变。尽管患者接受了手术治疗、放疗和替莫唑胺化疗,但术后 8 个月随访时肿瘤复发。综上所述,广泛的 CD34 表达和 TERT 启动子突变可能使 IDH-WT 组织学低级别胶质瘤具有恶性转化的潜力,使其迅速进展为胶质母细胞瘤。

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