A sensitive and specific diagnostic panel to distinguish diffuse astrocytoma from astrocytosis: chromosome 7 gain with mutant isocitrate dehydrogenase 1 and p53.
A sensitive and specific diagnostic panel to distinguish diffuse astrocytoma from astrocytosis: chromosome 7 gain with mutant isocitrate dehydrogenase 1 and p53.
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DOI：
10.1097/nen.0b013e31820565f9
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发表时间：
2011-02
影响因子：
3.2
通讯作者：
Louis DN
中科院分区：
文献类型：
--
作者：
Camelo-Piragua S;Jansen M;Ganguly A;Kim JC;Cosper AK;Dias-Santagata D;Nutt CL;Iafrate AJ;Louis DN
外科神经病理学的主要挑战之一是弥漫性星形细胞瘤（世界卫生组织[WHO] II级）与星形细胞病的区别。解决这个问题最常用的辅助工具是p53免疫组织化学（IHC），但这既不敏感也不特异。异柠檬酸脱氢酶1（IDH 1）突变在低级别神经胶质瘤中很常见，大多数导致可以用单克隆抗体检测到的特定氨基酸变化（R132 H）。IDH 2突变是罕见的，但也发生在神经胶质瘤中。此外，7号染色体的获得在神经胶质瘤中是常见的。在这项研究中，我们评估了p53，IDH 1/2和7号染色体的状态，以确定最有用的面板，以区分星形细胞瘤和星形细胞病。我们研究了21例WHO II级弥漫性星形细胞瘤和20例反应性疾病的活检标本。鉴别星形细胞瘤最敏感的方法是7号染色体荧光原位杂交（FISH）（76.2%）。p53和突变体IDH 1 IHC的组合提供了比单独检测（47.8%）更高的灵敏度（71.4%）;这种组合为外科病理学家提供了一种实用的初始方法。当将7号染色体增益的FISH添加到p53突变体IDH 1 IHC组中时，达到最佳总体灵敏度（95%）。
One of the major challenges of surgical neuropathology is the distinction of diffuse astrocytoma (World Health Organization [WHO] grade II) from astrocytosis. The most commonly used ancillary tool to solve this problem is p53 immunohistochemistry (IHC), but this is neither sensitive nor specific. Isocitrate dehydrogenase 1 (IDH1) mutations are common in lower grade gliomas, with most causing a specific amino acid change (R132H) that can be detected with a monoclonal antibody. IDH2 mutations are rare, but also occur in gliomas. In addition, gains of chromosome 7 are common in gliomas. In this study we assessed the status of p53, IDH1/2 and chromosome 7 to determine the most useful panel to distinguish astrocytoma from astrocytosis. We studied biopsy specimens from 21 WHO grade II diffuse astrocytomas and 20 reactive conditions. The single most sensitive test to identify astrocytoma is fluorescence in situ hybridization (FISH) for chromosome 7 gain (76.2%). The combination of p53 and mutant IDH1 IHC provides a higher sensitivity (71.4%) than either test alone (47.8%); this combination offers a practical initial approach for the surgical pathologist. The best overall sensitivity (95%) is achieved when FISH for chromosome 7 gain is added to the p53-mutant IDH1 IHC panel.