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使用快速、完全集成的分子诊断系统对交界性卵巢肿瘤和低级别卵巢癌进行KRAS突变检测。

KRAS mutation testing in borderline ovarian tumors and low-grade ovarian carcinomas with a rapid, fully integrated molecular diagnostic system.

作者信息

Sadlecki Pawel, Antosik Paulina, Grzanka Dariusz, Grabiec Marek, Walentowicz-Sadlecka Malgorzata

机构信息

1 Department of Obstetrics and Gynecology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Bydgoszcz, Poland.

2 Department of Clinical Pathomorphology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Bydgoszcz, Poland.

出版信息

Tumour Biol. 2017 Oct;39(10):1010428317733984. doi: 10.1177/1010428317733984.

Abstract

Epithelial ovarian neoplasms are a heterogeneous group of tumors, including various malignancies with distinct clinicopathologic and molecular features. Mutations in BRAF and KRAS genes are the most frequent genetic aberrations found in low-grade serous ovarian carcinomas and serous and mucinous borderline tumors. Implementation of targeted therapeutic strategies requires access to highly specific and highly sensitive diagnostic tests for rapid determination of mutation status. One candidate for such test is fully integrated, real-time polymerase chain reaction-based Idylla™ system for quick and simple detection of KRAS mutations in formaldehyde fixed-paraffin embedded tumor samples. The primary aim of this study was to verify whether fully integrated real-time polymerase chain reaction-based Idylla system may be useful in determination of KRAS mutation status in patients with borderline ovarian tumors and low-grade ovarian carcinomas. The study included tissue specimens from 37 patients with histopathologically verified ovarian masses, operated on at the Department of Obstetrics and Gynecology, Nicolaus Copernicus University Collegium Medicum in Bydgoszcz (Poland) between January 2009 and June 2012. Based on histopathological examination of surgical specimens, 30 lesions were classified as low-grade ovarian carcinomas and 7 as borderline ovarian tumors. Seven patients examined with Idylla KRAS Mutation Test tested positive for KRAS mutation. No statistically significant association was found between the incidence of KRAS mutations and histopathological type of ovarian tumors. Mean survival of the study subjects was 48.51 months (range 3-60 months). Presence of KRAS mutation did not exert a significant effect on the duration of survival in our series. Our findings suggest that Idylla KRAS Mutation Test may be a useful tool for rapid detection of KRAS mutations in ovarian tumor tissue.

摘要

上皮性卵巢肿瘤是一组异质性肿瘤,包括具有不同临床病理和分子特征的各种恶性肿瘤。BRAF和KRAS基因的突变是在低级别浆液性卵巢癌以及浆液性和黏液性交界性肿瘤中发现的最常见的基因畸变。实施靶向治疗策略需要获得高度特异性和高灵敏度的诊断测试,以便快速确定突变状态。这种测试的一个候选方法是基于实时聚合酶链反应的完全集成式Idylla™系统,用于在甲醛固定石蜡包埋的肿瘤样本中快速简单地检测KRAS突变。本研究的主要目的是验证基于实时聚合酶链反应的完全集成式Idylla系统是否可用于确定卵巢交界性肿瘤和低级别卵巢癌患者的KRAS突变状态。该研究纳入了2009年1月至2012年6月期间在波兰比得哥什哥白尼大学医学院妇产科接受手术的37例经组织病理学证实为卵巢肿物的患者的组织标本。根据手术标本的组织病理学检查,30个病变被分类为低级别卵巢癌,7个为卵巢交界性肿瘤。7例接受Idylla KRAS突变检测的患者检测出KRAS突变呈阳性。未发现KRAS突变发生率与卵巢肿瘤的组织病理学类型之间存在统计学上的显著关联。研究对象的平均生存期为48.51个月(范围3 - 60个月)。在我们的研究系列中,KRAS突变的存在对生存期没有显著影响。我们的研究结果表明,Idylla KRAS突变检测可能是快速检测卵巢肿瘤组织中KRAS突变的有用工具。

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