卵巢癌中微卫星不稳定性和杂合性缺失的分析：巴西圣埃斯皮里图州人群的一项研究。

Analysis of microsatellite instability and loss of heterozygosity in ovarian cancer: a study in the population of Espírito Santo, Brazil.

作者信息

Alves L N R, Wolfgramm E V, de Castro Neto A K, Louro I D

机构信息

Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brasil.

出版信息

Genet Mol Res. 2013 Jun 14;12(2):1996-2001. doi: 10.4238/2013.June.14.2.

DOI:10.4238/2013.June.14.2

PMID:23913383

Abstract

Ovarian cancer is currently the most lethal gynecological malignancy in women. It is a heterogeneous and cytogenetically complex disease previously associated with genomic instability. Our purpose was to analyze microsatellite markers to determine patterns and levels of instability as well as possible correlations with histopathological parameters. Polymerase chain reaction was used to characterize microsatellite instability (MSI) and loss of heterozygosity (LOH) in 24 ovarian tumors at 12 microsatellite loci. A total of 11 samples displayed MSI or LOH. Only low-level MSI was found. Markers D5S346 and CYP11 showed the highest MSI and LOH frequencies. D17S250 LOH was significantly associated with tumor histological type (P = 0.0003), and estrogen receptor α was also associated with tumor histological type (P = 0.048) when a combined analysis of LOH and MSI was performed. Furthermore, LOH was observed in a greater number of markers compared with those displaying MSI. Thus, our results support that MSI is less common than LOH in ovarian cancers.

摘要

卵巢癌是目前女性中最致命的妇科恶性肿瘤。它是一种异质性且细胞遗传学复杂的疾病，以前与基因组不稳定有关。我们的目的是分析微卫星标记，以确定不稳定的模式和水平以及与组织病理学参数的可能相关性。采用聚合酶链反应来表征24例卵巢肿瘤在12个微卫星位点的微卫星不稳定性（MSI）和杂合性缺失（LOH）。共有11个样本显示出MSI或LOH。仅发现了低水平的MSI。标记D5S346和CYP11显示出最高的MSI和LOH频率。当对LOH和MSI进行联合分析时，D17S250 LOH与肿瘤组织学类型显著相关（P = 0.0003），雌激素受体α也与肿瘤组织学类型相关（P = 0.048）。此外，与显示MSI的标记相比，在更多的标记中观察到了LOH。因此，我们的结果支持在卵巢癌中MSI比LOH少见。