| 张志文 张丰 李洁 徐玉乔 张丽英 李青.成人胶质瘤诊断的分子遗传学研究进展[J].,2016,16(12):2363-2367 |
| 成人胶质瘤诊断的分子遗传学研究进展 |
| Genetic Molecular Progress of Adult Glioma Diagnosis |
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| DOI： |
| 中文关键词: 胶质瘤 分子遗传学改变 "综合性" 诊断 |
| 英文关键词: Glioma Genetic molecular alteration "integrated" diagnosis |
| 基金项目: |
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| 中文摘要: |
| 胶质瘤是目前中枢神经系统中常见的恶性肿瘤，由于脑组织的特殊性，胶质瘤呈弥漫浸润性生长，恶性程度高，手术难以完
整切除且易复发。2007 年（第四版）WHO 中枢神经系统肿瘤病理学和遗传学对胶质瘤进行了详细的组织学分类，但是循证医学发
现依靠组织学的病理诊断标准并不能对胶质瘤的临床表现和预后评估作出精准的判断。近年来全世界都在开展胶质瘤相关的遗
传学研究，许多遗传学分子改变被发现，如异柠檬酸脱氢酶（IDH）突变、染色体1p/19q 缺失、TP53 突变、ATRX突变和TERT 启动
子突变等，组织学诊断受到了挑战。因此更多的病理科和神经外科医生结合组织形态和遗传学改变对胶质瘤作出" 综合性" 诊
断，使得病理诊断更接近胶质瘤的生物学本质，以便更精准的指导临床治疗。 |
| 英文摘要: |
| Gliomas are the most frequent malignant tumor in central nervous system tumors. Due to the particularity of human's
brain tissue, gliomas present in diffuse and infiltrative way. It features high malignant degree because of difficulty to resection and high
possibility of recurrence. The WHO classification of central nervous system tumors had depicted morphological subgroups of gliomas.
However, Evidence-Based Medicine proposed that pathological diagnosis depended on histological morphology is unable to judge
clinical presentation and prognosis of gliomas precisely. In recent years, glioma-related researches were carried in many institutes all over
the world, genetic features of gliomas were discovered, such as IDH mutation, chromosome 1p/19q deletion, TP53 mutation, ATRX
mutation and TERT promoter mutation etc, which proposed a challenge of histological diagnosis. As consequences, pathologists and
neurosurgeons draw more attention on combination of histologic morphology and genetic alteration, willing to set up "integrated"
diagnosis, which would be more close to biological nature of gliomas and could guide clinical therapy precisely. |
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