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[1p和19q缺失在成人胶质瘤中的诊断和预后价值:文献综述及对日常临床实践的启示]

[Diagnostic and prognostic values of 1p and 19q deletions in adult gliomas: critical review of the literature and implications in daily clinical practice].

作者信息

Fontaine D, Vandenbos F, Lebrun C, Paquis V, Frenay M

机构信息

Service de neurochirurgie, hôpital Pasteur, CHU de Nice, UNSA, 30, avenue de la Voie-Romaine, 06000 Nice, France.

出版信息

Rev Neurol (Paris). 2008 Jun-Jul;164(6-7):595-604. doi: 10.1016/j.neurol.2008.04.002. Epub 2008 May 21.

Abstract

Losses of chromosomes 1p and 19q are deemed correlated with diagnosis of oligodendroglioma, higher chemosensitivity and better prognosis. We reviewed the literature to evaluate the usefulness of these correlations in daily clinical practice. The rates of deletions relative to histology (WHO classifications) were extracted from 33 studies, including 2666 patients. The 1p deletions and 1p19q codeletion mean rates were respectively 65.4 and 63.3% in oligodendrogliomas, 28.7 and 21.6% in oligoastrocytomas, 13.2 and 7.5% in astrocytomas, 11.6 and 2.9% in glioblastomas. The presence of 1p deletion and 1p19q codeletion were strongly correlated with the histological diagnosis corresponding to oligodendroglioma. Calculation of specificity, sensitivity, predictive positive values and false negative rates suggests that presence of deletion 1p or codeletion represents a strong argument in favor of the diagnosis of oligodendroglioma. However, considering the high false negative rate, absence of such deletions does not rule out the diagnosis. In grade 3 oligodendroglial tumors, the probability of responding to chemotherapy, and the duration of response, were higher when codeletions were present. This suggests that, in these tumors, the presence of codeletion is a strong argument in favor of adjuvant chemotherapy. However, chemotherapy should not be systematically excluded when codeletions are absent, as the chances of response are about 33% in this situation. Data concerning low-grade gliomas were more controversial. Oligodendroglial tumors with 1p deletion or 1p19q codeletion seemed to have a better prognosis, as five-year survival rates were 50% higher than in tumors without deletion. This might be explained by the correlation between 1p deletion and other identified prognosis factors: (1) higher chemosensitivity, (2) tumor location more frequently in the frontal lobe, leading to better resection and lower risk of neurological deficit, (3) slower growth rate, (4) higher risk of epilepsy, leading to an early detection.

摘要

1号染色体和19号染色体缺失被认为与少突胶质细胞瘤的诊断、较高的化疗敏感性及较好的预后相关。我们回顾了文献以评估这些相关性在日常临床实践中的实用性。从33项研究(包括2666例患者)中提取了相对于组织学(世界卫生组织分类)的缺失率。少突胶质细胞瘤中1号染色体缺失和1p19q共缺失的平均率分别为65.4%和63.3%,少突星形细胞瘤中分别为28.7%和21.6%,星形细胞瘤中分别为13.2%和7.5%,胶质母细胞瘤中分别为11.6%和2.9%。1号染色体缺失和1p19q共缺失与少突胶质细胞瘤对应的组织学诊断密切相关。特异性、敏感性、预测阳性值和假阴性率的计算表明,1号染色体缺失或共缺失的存在是支持少突胶质细胞瘤诊断的有力依据。然而,考虑到高假阴性率,此类缺失的不存在并不能排除诊断。在3级少突胶质细胞瘤中,存在共缺失时对化疗的反应概率及反应持续时间更高。这表明,在这些肿瘤中,共缺失的存在是支持辅助化疗的有力依据。然而,当不存在共缺失时,不应一概排除化疗,因为在这种情况下仍有大约33%的反应机会。关于低级别胶质瘤的数据更具争议性。存在1号染色体缺失或1p19q共缺失的少突胶质细胞瘤似乎预后更好,因为五年生存率比无缺失的肿瘤高50%。这可能由1号染色体缺失与其他已确定的预后因素之间的相关性来解释:(1)较高的化疗敏感性;(2)肿瘤位置更常位于额叶,导致更好的切除及更低的神经功能缺损风险;(3)生长速度较慢;(4)癫痫风险较高,导致早期发现。

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