Is the 1p/19q deletion a diagnostic marker of oligodendrogliomas?
Is the 1p/19q deletion a diagnostic marker of oligodendrogliomas?
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DOI：
10.1016/j.cancergencyto.2009.05.004
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发表时间：
2009-10-01
影响因子：
--
通讯作者：
Drouin, Regen
中科院分区：
文献类型：
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作者：
Gadji, Macoura;Fortin, David;Drouin, Regen
弥漫浸润性胶质瘤的诊断和分类是基于其组织病理学表现;然而，由于模糊和主观的组织病理学标准，弥漫性胶质瘤的组织病理学描述可能很困难。染色体臂1 p和19 q的联合丢失（表示为1 p-/19 q-）已被证明是少突胶质细胞瘤化疗反应和生存的有力预测因子。我们采用分子遗传学技术对最初诊断为少突胶质细胞瘤或少突星形细胞瘤的脑肿瘤患者进行了回顾性和前瞻性研究。荧光原位杂交，使用特异性的1号和19号染色体的探针进行了22例石蜡包埋组织回顾性研究，15个触摸准备涂片样本进行了前瞻性研究，和杂合性丢失（洛H）的筛选与1号和19号染色体特异性微卫星标记的I1样本进行。37例中24例有1 p-/19 q-，1例仅1 p-，2例仅19 q-，10例无缺失。利用洛（LOH）将最大缺失长度定位在标记D1 S2795（1p36.31位点）和D1 S2722（1p34.2位点）之间以及标记D19 S416（19q13.11位点）和D19 S397（19q13.14位点）之间。7例单纯性少突胶质细胞瘤均为1 p-/19 q-。根据以前的研究结果，1 p-/19 q-组合似乎是一个典型的少突胶质细胞瘤的客观诊断标志物，可以使用，结合组织学检查，以提高少突胶质细胞瘤的诊断。在触摸准备上的荧光原位杂交是在24小时内获得1 p-/19 q-信息的简单方法。(C)2009 Elsevier Inc. All rights reserved.
The diagnosis and classification of diffusely infiltrative gliomas are based on their histopathological appearance; however, histopathological delineation of diffuse gliomas can be difficult because of vague and subjective histopathological criteria. Combined loss of chromosome arms 1p and 19q (denoted as 1p-/19q-) has proven to be a powerful predictor of chemotherapeutic response and survival in oligodendrogliomas. We undertook retrospective and prospective studies of brain tumor patients originally diagnosed as oligodendrogliomas or oligoastrocytomas patients followed at our institution using molecular genetic techniques. Fluorescence in situ hybridization using probes specific for chromosomes 1 and 19 was performed on 22 paraffin-embedded tissues retrospectively; 15 touch-preparation smear samples were studied prospectively; and loss of heterozygosity (LOH) screening was performed on I 1 samples with microsatellite markers specific to chromosome 1 and chromosome 19. Of the 37 cases, 24 had 1p-/19q-, 1 case had 1p- only, 2 cases had 19q- only, and 10 cases had no deletion. The length of the largest deletion was mapped between markers D1S2795 (1p36.31 locus) and D1S2722 (1p34.2 locus) and between markers D19S416 (19q13.11 locus) and D19S397 (19q13.14 locus), using LOH. All of the pure oligodendrogliomas (n = 7) harbored 1p-/19q-. In light of previous findings, the 1p-/19q- combination appears to be an objective diagnosis marker of classic oligodendrogliomas, one that can be used, in combination with histological examination, to improve the diagnosis of oligodendroglioma. Fluorescence in situ hybridization on touch preparations is a simple way to obtain information on 1p-/19q- in 24 hours. (C) 2009 Elsevier Inc. All rights reserved.