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肠型鼻窦腺癌基因变化的全基因组分析

Genome-wide analysis of genetic changes in intestinal-type sinonasal adenocarcinoma.

作者信息

Hermsen Mario A, Llorente José Luis, Pérez-Escuredo Jhudit, López Fernando, Ylstra Bauke, Alvarez-Marcos César, Suárez Carlos

机构信息

Department of Otorhinolaryngology, IUOPA, Hospital Universitario Central de Asturias, Asturias, Spain.

出版信息

Head Neck. 2009 Mar;31(3):290-7. doi: 10.1002/hed.20973.

Abstract

BACKGROUND

Intestinal-type sinonasal adenocarcinomas are rare tumors related to professional exposure to wood dust. Little is known about the genetic changes in these tumors.

METHODS

Twenty-two tumors were analyzed by microarray comparative genomic hybridization (CGH). In addition, DNA ploidy was measured by flow cytometry and microsatellite instability (MSI) by multiplex PCR.

RESULTS

The most frequent gains were, in descending order, as follows: 5p15, 20q13, and 8q24. Losses occurred most frequently at 4q31-qter, 18q12-22, 8p12-pter, and 5q11-qter. MSI was not detected. Seven cases that harbored very few changes were mostly DNA diploid and had more favorable clinicopathological features, such as lack of intracranial invasion, less metastases, and longer overall survival.

CONCLUSION

The microarray CGH results enabled to better define hotspots of chromosomal gains and losses for further investigation of genes involved in the tumorigenesis of sinonasal adenocarcinoma. In addition, the data allowed classification of a group of patients with better clinical outcome.

摘要

背景

肠型鼻窦腺癌是与职业性接触木屑相关的罕见肿瘤。对这些肿瘤的基因变化了解甚少。

方法

通过微阵列比较基因组杂交(CGH)分析22例肿瘤。此外,通过流式细胞术测量DNA倍体,并通过多重PCR检测微卫星不稳定性(MSI)。

结果

最常见的扩增,按降序排列如下:5p15、20q13和8q24。缺失最常发生在4q31-qter、18q12-22、8p12-pter和5q11-qter。未检测到MSI。7例变化极少的病例大多为DNA二倍体,具有更有利的临床病理特征,如无颅内侵犯、转移较少和总生存期较长。

结论

微阵列CGH结果有助于更好地确定染色体扩增和缺失的热点,以便进一步研究参与鼻窦腺癌肿瘤发生的基因。此外,这些数据允许对一组临床结果较好的患者进行分类。

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