依据世界卫生组织2016年指南，荧光原位杂交技术对1p、19q、9p和10q进行自动分析在少突胶质细胞瘤诊断和预后中的作用
Contribution of 1p, 19q, 9p and 10q Automated Analysis by FISH to the Diagnosis and Prognosis of Oligodendroglial Tumors According to WHO 2016 Guidelines.
作者信息
Michaud Karine, de Tayrac Marie, D'Astous Myreille, Duval Céline, Paquet Claudie, Samassekou Oumar, Gould Peter Vincent, Saikali Stéphan
机构信息
Department of Neurosurgery, Centre Hospitalier Universitaire de Québec, Québec, Canada.
Department of Genomic and Molecular Genetics, Centre Hospitalier Universitaire de Rennes, Rennes, France.
出版信息
PLoS One. 2016 Dec 28;11(12):e0168728. doi: 10.1371/journal.pone.0168728. eCollection 2016.
OBJECTIVE
To study the feasibility and the diagnostic and prognostic interest of automated analysis of 1p, 19q, 9p and 10q status by FISH technique in oligodendroglial tumors.
METHODS
We analyzed a retrospective series of 33 consecutive gliomas with oligodendroglial histology (originally diagnosed as 24 oligodendrogliomas and 9 oligoastrocytomas). For all cases, automated FISH analysis of 1p, 19q, 9p and 10q status were performed and compared to clinical and histological data, ATRX, IDH1R132H and alpha-internexin status (studied by immunohistochemistry) and overall survival (OS). Manual analysis of 9p and 10q status were also performed and compared to automated analysis to verify the concordance of the two methods.
RESULTS
The 33 gliomas were reclassified into 13 low-grade oligodendrogliomas (OII), 10 anaplastic oligodendrogliomas (OIII), 3 diffuse astrocytomas (AII), 3 anaplastic astrocytomas (AIII) and 4 glioblastomas (GBM) according to the WHO 2016 histological criteria. The 1p and/or 19q imbalanced status were restricted to astrocytomas with no correlation to their grade or their OS. Chromosome 9p deletion was restricted to OIII (70%) and GBM (100%) and was correlated with a shorter OS in the total cohort (p = 0.0007), the oligodendroglioma cohort (p = 0.03) and the astrocytoma cohort (p = 0.001). Concordance between 9p manual and automated analysis was satisfactory (81%, κ = 0.69). Chromosome 10q deletion was restricted to GBMs (50%) and was correlated with a poor OS in both the total cohort (p = 0.003) and the astrocytoma (AS) cohort (p = 0.04). Concordance between manual and automated analysis was satisfactory (79%, κ = 0.62).
CONCLUSION
Automated analysis of 1p, 19q, 9p and 10q status by FISH is a reliable technique which allows for refined classification of oligodendroglial tumors. 1p and/or 19q imbalanced status is evidence of astrocytic differentiation. 9p deletion is found in high grade oligodendrogliomas and astrocytomas with a poor OS. 10q is related to GBM status and a poor OS.
目的
研究采用荧光原位杂交（FISH）技术自动分析少突胶质细胞瘤中1p、19q、9p和10q状态的可行性及其诊断和预后价值。
方法
我们回顾性分析了33例具有少突胶质细胞组织学特征的连续胶质瘤病例（最初诊断为24例少突胶质细胞瘤和9例少突星形细胞瘤）。对所有病例进行1p、19q、9p和10q状态的自动FISH分析，并与临床和组织学数据、ATRX、异柠檬酸脱氢酶1（IDH1）R132H突变状态及α-中间丝蛋白状态（通过免疫组织化学研究）和总生存期（OS）进行比较。同时也对9p和10q状态进行手工分析，并与自动分析结果进行比较，以验证两种方法的一致性。
结果
根据世界卫生组织2016年组织学标准，33例胶质瘤重新分类为13例低级别少突胶质细胞瘤（OII级）、10例间变性少突胶质细胞瘤（OIII级）、3例弥漫性星形细胞瘤（AII级）、3例间变性星形细胞瘤（AIII级）和4例胶质母细胞瘤（GBM）。1p和/或19q失衡状态仅限于星形细胞瘤，与肿瘤级别或总生存期无关。9号染色体短臂（9p）缺失仅限于OIII级（70%）和GBM（100%），在整个队列（p = 0.0007）、少突胶质细胞瘤队列（p = 0.03）和星形细胞瘤队列（p = 0.001）中与较短的总生存期相关。9p手工分析与自动分析之间的一致性良好（81%，κ = 0.69）。10号染色体长臂（10q）缺失仅限于GBM（50%），在整个队列（p = 0.003）和星形细胞瘤（AS）队列（p = 0.04）中均与较差的总生存期相关。手工分析与自动分析之间的一致性良好（79%，κ = 0.62）。
结论
通过FISH自动分析1p、19q、9p和10q状态是一种可靠的技术，可用于少突胶质细胞瘤的精确分类。1p和/或19q失衡状态是星形细胞分化的证据。9p缺失见于高级别少突胶质细胞瘤和星形细胞瘤，总生存期较差。10q与GBM状态及较差的总生存期相关。
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