Atypical molecular background of glioblastoma and meningioma developed in a patient with Li-Fraumeni syndrome
Atypical molecular background of glioblastoma and meningioma developed in a patient with Li-Fraumeni syndrome
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DOI：
10.1007/s11060-004-9181-3
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发表时间：
2005-01-01
影响因子：
3.9
通讯作者：
Liberski, PP
中科院分区：
文献类型：
--
作者：
Rieske, P;Zakrzewska, M;Liberski, PP
我们观察到三种完全不同组织结构的肿瘤：恶性纤维组织细胞瘤(MFH)、不典型脑膜瘤(AM)和胶质母细胞瘤(GB)，均发生在一位Li-Fraumeni综合征患者身上。通过使用联合分子方法，我们对所有三种肿瘤进行了分子表征。获得的数据显示了AM和GB的有趣的分子背景。AM存在TP53突变和22q杂合性缺失(LOH)。Gb显示表皮生长因子受体(EGFR)扩增和TP53突变，而P16、PTEN、Rb在杂合性缺失和/或多重聚合酶链式反应(PCR)分析中均未见异常。此外，GB有1Q LOH，这在胶质母细胞瘤中是一种极其罕见的改变。在MFH中也观察到相同的1q杂合性缺失。
We observed three neoplasms with completely different histologies: malignant fibrous histiocytoma (MFH), atypical meningioma (AM), and glioblastoma (GB), developing in a patient with Li-Fraumeni syndrome. By using a combined molecular approach we performed molecular characterization of all three tumours. Data obtained showed an interesting molecular background of the AM and GB. AM showed TP53 mutations and a 22q loss of heterozygosity (LOH). GB showed epidermal growth factor receptor (EGFR) amplification and TP53 mutations, whereas P16, PTEN, Rb were intact in terms of LOH and/or multiplex PCR (polymerase chain reaction) analysis. Additionally, GB has a 1q LOH, which is an extremely rare alteration in glioblastomas. Identical 1q LOH was also observed in MFH.