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中枢神经细胞瘤:SNP 阵列分析、亚端粒 FISH 及文献复习。

Central neurocytoma: SNP array analyses, subtel FISH, and review of the literature.

机构信息

Dept. of Neurosurgery, University of Leipzig, Liebigstraße 26, 04103 Leipzig, Germany.

Dept. of Neurosurgery, University of Leipzig, Liebigstraße 26, 04103 Leipzig, Germany; Saxonian Incubator for Clinical Translation, University of Leipzig, Philipp-Rosenthal Str. 55, 04103 Leipzig, Germany.

出版信息

Pathol Res Pract. 2019 Jul;215(7):152397. doi: 10.1016/j.prp.2019.03.025. Epub 2019 Mar 27.

DOI:10.1016/j.prp.2019.03.025
PMID:31000381
Abstract

The central neurocytoma (CN) is a rare brain tumor with a frequency of 0.1-0.5% of all brain tumors. According to the World Health Organization classification, it is a benign grade II tumor with good prognosis. However, some CN occur as histologically "atypical" variant, combined with increasing proliferation and poor clinical outcome. Detailed genetic knowledge could be helpful to characterize a potential atypical behavior in CN. Only few publications on genetics of CN exist in the literature. Therefore, we performed cytogenetic analysis of an intraventricular neurocytoma WHO grade II in a 39-year-old male patient by use of genome-wide high-density single nucleotide polymorphism array (SNP array) and subtelomere FISH. Applying these techniques, we could detect known chromosomal aberrations and identified six not previously described chromosomal aberrations, gains of 1p36.33-p36.31, 2q37.1-q37.3, 6q27, 12p13.33-p13.31, 20q13.31-q13.33, and loss of 19p13.3-p12. Our case report contributes to the genetic knowledge about CN and to increased understanding of "typical" and "atypical" variants.

摘要

中枢神经细胞瘤(CN)是一种罕见的脑肿瘤,其频率占所有脑肿瘤的 0.1-0.5%。根据世界卫生组织的分类,它是一种良性的 2 级肿瘤,预后良好。然而,一些 CN 表现为组织学上的“非典型”变体,伴有增殖增加和不良的临床结局。详细的遗传知识有助于描述 CN 潜在的非典型行为。关于 CN 的遗传学的出版物很少。因此,我们对一名 39 岁男性患者的脑室神经细胞瘤(WHO 分级 II)进行了全基因组高密度单核苷酸多态性微阵列(SNP 微阵列)和端粒 FISH 检测,以进行细胞遗传学分析。应用这些技术,我们可以检测到已知的染色体异常,并鉴定出六个以前未描述的染色体异常,包括 1p36.33-p36.31、2q37.1-q37.3、6q27、12p13.33-p13.31、20q13.31-q13.33 和 19p13.3-p12 的缺失。我们的病例报告有助于增加对 CN 的遗传知识的了解,并提高对“典型”和“非典型”变体的认识。

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