International Agency for Research on Cancer, Lyon, France.
Cancer Sci. 2009 Dec;100(12):2235-41. doi: 10.1111/j.1349-7006.2009.01308.x. Epub 2009 Aug 6.
Gliomas are the most common primary brain tumors. They account for more than 70% of all neoplasms of the central nervous system and vary considerably in morphology, location, genetic alterations, and response to therapy. Most frequent and malignant are glioblastomas. The vast majority (>90%) develops rapidly after a short clinical history and without evidence of a less malignant precursor lesion (primary or de novo glioblastoma). Secondary glioblastomas develop more slowly through progression from low-grade or anaplastic astrocytoma. These glioblastoma subtypes constitute distinct disease entities that affect patients of different age, develop through distinct genetic pathways, show different RNA and protein expression profiles, and may differ in their response to radio- and chemotherapy. Recently, isocitrate dehydrogenase 1 (IDH1) mutations have been identified as a very early and frequent genetic alteration in the pathway to secondary glioblastomas as well as that in oligodendroglial tumors, providing the first evidence that low-grade astrocytomas and oligodendrogliomas may share common cells of origin. In contrast, primary glioblastomas very rarely contain IDH1 mutations, suggesting that primary and secondary glioblastomas may originate from different progenitor cells, despite the fact that they are histologically largely indistinguishable. In this review, we summarize the current status of genetic alterations and signaling pathways operative in the evolution of astrocytic and oligodendroglial tumors.
神经胶质瘤是最常见的原发性脑肿瘤。它们占中枢神经系统所有肿瘤的 70%以上,在形态、位置、遗传改变和对治疗的反应方面差异很大。最常见和恶性的是胶质母细胞瘤。绝大多数 (>90%)在短的临床病史后迅速发展,且没有证据表明存在恶性程度较低的前体病变(原发性或新发胶质母细胞瘤)。继发性胶质母细胞瘤通过从低级别或间变性星形细胞瘤进展而缓慢发展。这些胶质母细胞瘤亚型构成不同的疾病实体,影响不同年龄的患者,通过不同的遗传途径发展,表现出不同的 RNA 和蛋白质表达谱,并且可能对放射和化学治疗的反应不同。最近,异柠檬酸脱氢酶 1 (IDH1) 突变被确定为继发性胶质母细胞瘤以及少突胶质细胞瘤途径中的一个非常早期和常见的遗传改变,这首次表明低级别星形细胞瘤和少突胶质细胞瘤可能具有共同的起源细胞。相比之下,原发性胶质母细胞瘤很少含有 IDH1 突变,这表明原发性和继发性胶质母细胞瘤可能起源于不同的祖细胞,尽管它们在组织学上几乎无法区分。在这篇综述中,我们总结了目前在星形细胞瘤和少突胶质细胞瘤演变中起作用的遗传改变和信号通路的现状。