Gene mutation at chromosome 22 in sporadic patients with spinal schwannomatosis: A preliminary analysis

Q4 Medicine

中华神经外科杂志 Pub Date : 2019-10-28 DOI:10.3760/CMA.J.ISSN.1001-2346.2019.10.019

Jian-jun Sun, M. Zheng, Xiao-hui Lou, Jun Yang

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引用次数: 0

Abstract

Objective To analyze the correlation on the prominent germline or somatic mutations at chromosome 22 of the sporadic patients with spinal schwannomatosis. Methods From May to November 2015, 9 serial patients with multiple spinal cord tumors underwent open surgery at Neurosurgical Department, the Third Hospital of Peking University. All spinal cord tumors in the 9 patients were removed by operation. The multiple spinal cord tumors were located at lumbar segments in 4 patients, at cervical segments in 4, and at thoracolumbar segments in 1. The samples of tumor and blood were preserved during operation. In order to determine the SNP (single nucleotide polymorphism), SNV (single nucleotide variants) and CNV (copy number variations) of 9 patients, whole-exome targeted enrichment and sequencing were performed on tumor and blood DNA after operation. Results The open surgery was successful performed in 9 patients. Among 9 patients, histological staining showed neurofibromatosis type I (NF1) in 3 cases, ganglioneuroma in 1, ependymoma in 1, and schwannomatosis in 4 (1 case with comorbidity of bilateral acoustic tumors). Among 9 sporadic cases, gene mutation was detected in a large region of chromosome 22 only in 4 cases with spinal schwannomatosis. Among 4 cases, the germline mutation was identified in 2 cases, and somatic mutation in 2 cases. Splice-donor neurofibromatosis type 2 (NF2) germline high frequency mutation (T→C) was identified in the No.1 patient. Frame-shift leucine-zipper-like transcriptional regulator 1 (LZTR1) germline high frequency mutation (G→GT) was identified in the No. 2 patient. Frameshift NF2 somatic mutation (CGA→C) was identified in the No. 3 patient. Stop-gained NF2 somatic mutation was identified in the No. 4 patient. Among 4 cases, chromosome fibrillin 3 (FBN3) intermediate frequency missense mutation was simultaneously found in chromosome 19 in 2 cases, out of which 1 was somatic mutation and the other was germ line mutation. Conclusion The preliminary results have suggested that most of the genes with high frequency mutations in spinal schwannomatosis are on chromosome 22. Key words: Schwannomatosis; Spinal cord; Genetic testing

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散发性脊髓神经鞘瘤病患者22号染色体基因突变的初步分析

目的分析散发性脊髓神经鞘瘤患者22号染色体显著种系或体细胞突变的相关性。方法2015年5月至11月，9例多发性脊髓肿瘤患者在北京大学第三医院神经外科行开放性手术治疗。9例脊髓肿瘤均行手术切除。多发脊髓肿瘤4例位于腰椎节段，4例位于颈椎节段，1例位于胸腰椎节段。术中保存肿瘤及血液标本。为了确定9例患者的单核苷酸多态性(SNP)、单核苷酸变异(SNV)和拷贝数变异(CNV)，我们对术后肿瘤和血液DNA进行了全外显子组靶向富集和测序。结果9例患者手术成功。9例患者中，组织学染色显示I型神经纤维瘤病(NF1) 3例，神经节神经瘤1例，室管膜瘤1例，神经鞘瘤病4例(1例合并双侧听神经肿瘤)。在9例散发病例中，仅有4例脊髓神经鞘瘤病22号染色体出现大面积基因突变。4例中，种系突变2例，体细胞突变2例。1例患者发现剪接供体神经纤维瘤病2型(NF2)种系高频突变(T→C)。在2号患者中发现移框亮氨酸拉链样转录调节因子1 (LZTR1)种系高频突变(G→GT)。在3号患者中发现移码NF2体细胞突变(CGA→C)。在第4例患者中发现了停止获得的NF2体细胞突变。4例患者中，2例在19号染色体同时发现纤维蛋白3 (FBN3)中频错义突变，其中1例为体细胞突变，1例为种系突变。结论脊髓神经鞘瘤病的高频突变基因主要集中在22号染色体上。关键词:神经鞘瘤病;脊髓的;基因检测

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来源期刊

中华神经外科杂志 Medicine-Surgery

CiteScore

0.10

自引率

0.00%

发文量

10706

期刊介绍： Chinese Journal of Neurosurgery is one of the series of journals organized by the Chinese Medical Association under the supervision of the China Association for Science and Technology. The journal is aimed at neurosurgeons and related researchers, and reports on the leading scientific research results and clinical experience in the field of neurosurgery, as well as the basic theoretical research closely related to neurosurgery.Chinese Journal of Neurosurgery has been included in many famous domestic search organizations, such as China Knowledge Resources Database, China Biomedical Journal Citation Database, Chinese Biomedical Journal Literature Database, China Science Citation Database, China Biomedical Literature Database, China Science and Technology Paper Citation Statistical Analysis Database, and China Science and Technology Journal Full Text Database, Wanfang Data Database of Medical Journals, etc.