基于阵列CGH策略的长期癫痫相关肿瘤细胞基因组分析

IF 1.7 4区生物学 Q4 CELL BIOLOGY

Cytogenetic and Genome Research Pub Date : 2022-04-27 DOI:10.1159/000524130

J. Jesus-Ribeiro, I. Ribeiro, L. Pires, P. Paiva, Sandra Simões, Cristina Pereira, Conceição Robalo, Ricardo Pereira, F. Sales, O. Rebelo, I. Santana, A. Freire, Joana Barbosa Melo

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引用次数: 0

摘要

长期癫痫相关肿瘤(LEATs)中拷贝数变化的调色板已被报道，但数据是异质的。为了更好地了解leat发展的分子基础，我们进行了阵列比较基因组杂交分析，以研究8例leat患者的全基因组染色体失衡。4例患者出现大量畸变，其中以缺失为主。观察到全染色体和区域异常，包括单体19,1p缺失，4p, 12p和22q缺失，20p获得。常见的改变区主要位于19和4p染色体上，确定了可能参与与肿瘤发生相关的生物过程和细胞机制的基因。我们的研究强调了新的基因组改变，并加强了先前报道的其他改变，提供了新的分子见解，可能有助于诊断和治疗决策。

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Cytogenomic Analysis of Long-Term Epilepsy-Associated Tumors Using an Array-Based CGH Strategy

A palette of copy number changes in long-term epilepsy-associated tumors (LEATs) have been reported, but the data are heterogeneous. To better understand the molecular basis underlying the development of LEATs, we performed array-comparative genomic hybridization analysis to investigate chromosomal imbalances across the entire genome in 8 cases of LEATs. A high number of aberrations were found in 4 patients, among which deletions predominated. Both whole-chromosome and regional abnormalities were observed, including monosomy 19, deletion of 1p, deletions of 4p, 12p, and 22q, and gain of 20p. The common altered regions are located mainly on chromosomes 19 and 4p, identifying genes potentially involved in biological processes and cellular mechanisms related to tumorigenesis. Our study highlights new genomic alterations and reinforces others previously reported, offering new molecular insights that may help in diagnosis and therapeutic decision-making.

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来源期刊

Cytogenetic and Genome Research 生物-细胞生物学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

1 months

期刊介绍： During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.