Kleihues P, Ohgaki H
International Agency for Research on Cancer (IARC), World Health Organization (WHO), Lyon, France.
Neuro Oncol. 1999 Jan;1(1):44-51. doi: 10.1093/neuonc/1.1.44.
Glioblastomas may develop de novo (primary glioblastomas) or through progression from low-grade or anaplastic astrocytomas, (secondary glioblastomas). These subtypes of glioblastoma constitute distinct disease entities that evolve through different genetic pathways, affect patients at different ages, and are likely to differ in prognosis and response to therapy. Primary glioblastomas develop in older patients and typically show EGFR overexpression, PTEN (MMAC1) mutations, CDKN2A (p16) deletions, and less frequently, MDM2 amplification. Secondary glioblastomas develop in younger patients and often contain TP53 mutations as the earliest detectable alteration. These characteristics are derived largely from patients selected on the basis of clinical history and sequential biopsies. Currently available data are insufficient for a substitution of histologic classification and grading of astrocytic tumors by genetic typing alone. More subtypes of glioblastomas may exist with intermediate clinical and genetic profiles, a factor exemplified by the giant-cell glioblastoma that clinically and genetically occupies a hybrid position between primary (de novo) and secondary glioblastomas. Future research should aim at the identification of criteria for a combined clinical, histologic, and genetic classification of astrocytic tumors.
胶质母细胞瘤可原发形成(原发性胶质母细胞瘤),或由低级别或间变性星形细胞瘤进展而来(继发性胶质母细胞瘤)。这些胶质母细胞瘤亚型构成了不同的疾病实体,它们通过不同的遗传途径演变,影响不同年龄段的患者,并且在预后和对治疗的反应方面可能存在差异。原发性胶质母细胞瘤发生于老年患者,通常表现为表皮生长因子受体(EGFR)过表达、第10号染色体同源缺失性磷酸酶-张力蛋白基因(PTEN,又称MMAC1)突变、细胞周期蛋白依赖性激酶抑制剂2A基因(CDKN2A,又称p16)缺失,较少见的还有鼠双微体2基因(MDM2)扩增。继发性胶质母细胞瘤发生于年轻患者,通常最早可检测到的改变是含有第17号染色体短臂上的肿瘤抑制基因(TP53)突变。这些特征很大程度上源自根据临床病史和序贯活检选择的患者。目前可获得的数据不足以仅通过基因分型替代星形细胞瘤的组织学分类和分级。可能存在更多具有中间临床和基因特征的胶质母细胞瘤亚型,巨大细胞胶质母细胞瘤在临床和遗传学上处于原发性(新发)和继发性胶质母细胞瘤之间的混合位置就是一个例证。未来的研究应致力于确定星形细胞瘤临床、组织学和基因联合分类的标准。