卵巢和/或子宫体子宫内膜样腺癌患者肿瘤微卫星不稳定状态的检测

A. S. Aniskina, J. G. Payanidi, A. M. Stroganova, I. V. Manina, K. I. Zhordania
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引用次数: 0

摘要

介绍。摘要女性生殖器官多发原发恶性肿瘤是一种罕见的疾病。然而,在过去的几十年里,人们对肿瘤中这种现象的研究兴趣激增。对于卵巢和子宫体的同步性子宫内膜样腺癌的诊断尤其如此,它们在组织学上属于同一胚层,具有相似的组织结构。直到最近,临床医生在这些病例中只依赖于形态学检查,但随着分子遗传技术的发展,新的诊断可能性已经出现。的目标。是对卵巢和/或子宫体子宫内膜样腺癌患者肿瘤微卫星不稳定状态的检测。材料与方法。为了确定卵巢和/或子宫体肿瘤的微卫星不稳定性(MSI)状态,我们进行了一项前瞻性回顾性分子遗传学研究(n = 48):该研究纳入了33例单发子宫内膜样卵巢癌患者和15例卵巢和子宫体同步子宫内膜样腺癌患者。采用PCR法检测微卫星不稳定状态,随后在ABI PRISM 3500基因分析仪(8支毛细管,Applied Biosystems)上进行片段分析。根据制造商的手册,使用DNAsorb B提取试剂盒(AmpliSens,俄罗斯)从手术标本的石蜡块中分离DNA。使用Qubit 2.0 (Life Technologies, USA)荧光法估计DNA浓度。使用GeneMapper程序(Thermo Fisher, USA)分析所得数据。当两个及两个以上标记多态性时,观察到高度微卫星不稳定性(MSI-H)。结果。单发子宫内膜样卵巢癌(n = 33)中MSI-H的发生率为12.1%(4例),而同步卵巢和子宫体肿瘤(n = 15)中MSI-H的发生率为20% (n = 3)。目前仅有卵巢和子宫内膜样组织型合并且微卫星不稳定状态相同的病例。因此,MSI-H在卵巢和子宫体的同步子宫内膜样腺癌中的发病率(20%)与孤立性子宫内膜癌的发病率相当。结论。我们的初步研究是对先前发表的材料的重要补充,因为它可以确认卵巢和子宫体子宫内膜样腺癌患者肿瘤的克隆起源,这可以影响这类患者的治疗策略分层。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Detection of a status of microsatellite instability in tumors of patients with endometrioid adenocarcinoma of the ovaries and/or of uterine corpus
Introduction. Multiple primary malignant neoplasms of female reproductive organs are a rare pathology. However, over the past decades, there has been an upsurge of interest in the study of this phenomenon in oncology. This is particularly the case for the diagnosis of synchronous endometrioid adenocarcinoma of the ovaries and uterine corpus, which histogenetically belong to the same germ layer and have similar histological structure. Until recently, clinicians relied only on morphological examination in these cases, but with the development of molecular genetic technologies, new diagnostic possibilities have emerged. Aim. Is the detection of the status of microsatellite instability in tumors of patients with endometrioid adenocarcinoma of the ovaries and/or uterine corpus. Materials and Methods. A pilot retrospective molecular genetic study ( n = 48) was conducted to determine the status of microsatellite instability (MSI) in the tumors of the ovaries and/or uterine corpus: it involved 33 patients with solitary endometrioid ovarian cancer and 15 patients with synchronous endometrioid adenocarcinoma of the ovaries and uterine corpus. Microsatellite instability status was detected using PCR method with subsequent fragment analysis performed on ABI PRISM 3500 genetic analyzer (8 capillaries, Applied Biosystems). DNA was isolated from paraffin blocks of surgical specimens using DNAsorb B extraction kit (AmpliSens, Russia), according to the manufacturer’s manual. DNA concentration was estimated fluorometrically using Qubit 2.0 (Life Technologies, USA). The obtained data were analyzed using GeneMapper program (Thermo Fisher, USA). In case of polymorphism of two and more markers high-level microsatellite instability (MSI-H) was observed. Results. The incidence of MSI-H in solitary endometrioid ovarian cancer ( n = 33) was 12,1 % (4 cases), while in synchronous ovarian and uterine corpus tumors ( n = 15) MSI-H incidence made up 20 % ( n = 3). Herewith, there have been only cases of a combination of endometrioid histotypes of ovarian and endometrial cancer with identical status of microsatellite instability. Thus, the incidence of MSI-H in synchronous endometrioid adenocarcinoma of the ovaries and uterine corpus (20 %) is comparable to that in solitary endometrial cancer. Conclusion. Our pilot study became a significant complement to the previously published materials, as it allowed to confirm the clonal origin of tumors in patients with endometrioid adenocarcinoma of the ovaries and uterine corpus, that can affect the stratification of treatment strategy for this category of patients.
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