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一名患者颅内和脊髓脑膜瘤中均存在22q13区域缺失(病例报告)。

The deletion of 22q13 region in both intracranial and spinal meningiomas in a patient (case report).

作者信息

Durmaz R, Arslantaş A, Artan S, Ozon Y H, Işiksoy S, Başaran N, Tel E

机构信息

Department of Neurosurgery, Medical Faculty of Osmangazi University, Eskişehir, Turkey.

出版信息

Clin Neurol Neurosurg. 1998 Sep;100(3):219-23. doi: 10.1016/s0303-8467(98)00034-1.

Abstract

We present a 69 year old man with two simultaneous meningiomas in different compartment of neural axis, in both of which 22q13 locus is lost. Histologically the two tumours appeared to be different; meningotheliomatous and transitional with psammoma bodies, respectively. No numerical or structural chromosome abnormalities were seen in karyotype analysis of the cultured spinal and cranial meningioma samples. Since long arm structural aberrations and/or whole loss of chromosome 22 are frequently reported abnormalities of meningiomas, the tumours were also analysed by fluorescence in situ hybridisation (FISH) with different colour-labelled probes in respect to relevant chromosome. The metaphases and interphase nuclei of the samples were evaluated by the combined biotinylated 22q11 and digoxigenin-labelled 22q13 locus specific FISH probes, and 22q13 deletion was revealed in both of spinal and cranial tumour cells. In conclusion, since both tumours from the presented case show the same genetic alterations, multiplicity may be derived from the same clone of cells, and support the theory of development of multiple meningiomas from the spreading of tumour cells via cerebrospinal fluid as a possible mechanism.

摘要

我们报告了一名69岁男性,其神经轴不同部位同时存在两个脑膜瘤,两个肿瘤均缺失22q13位点。组织学上,这两个肿瘤表现不同,分别为脑膜瘤型和伴有砂粒体的过渡型。对培养的脊髓和颅部脑膜瘤样本进行核型分析,未见染色体数目或结构异常。由于长臂结构畸变和/或22号染色体整条缺失是脑膜瘤常见的异常情况,因此还使用针对相关染色体的不同颜色标记探针,通过荧光原位杂交(FISH)对肿瘤进行分析。使用生物素化的22q11和地高辛标记的22q13位点特异性FISH探针组合,对样本的中期和间期核进行评估,结果显示脊髓和颅部肿瘤细胞均存在22q13缺失。总之,由于该病例的两个肿瘤显示相同的基因改变,多发型可能源自同一细胞克隆,这支持了肿瘤细胞通过脑脊液扩散导致多发性脑膜瘤发生的理论,这可能是一种发病机制。

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