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[杂合性缺失及微卫星不稳定性分析在子宫平滑肌肉瘤与增殖性平滑肌瘤鉴别诊断中的应用]

[The loss of heterozygosity and microsatellite instability analysis in differential diagnostics of leiomyosarcoma and proliferative leiomyoma of the uterus].

作者信息

Shikeeva A A, Kekeeva T V, Zavalishina L É, Andreeva Iu Iu, Frank G A

出版信息

Arkh Patol. 2011 Jul-Aug;73(4):47-50.

Abstract

Uterine leiomyosarcoma (ULMS) is rare and highly malignant smooth muscle tumor. The different diagnosis between uterine leiomyoma with high proliferative index (ULM) and ULMS is one of the basic problems in the pathology for nowadays. We had investigated the loss of heterozygosity (LOH) and microsatellite instability (MI) to find out a genetic differences between ULM and ULMS. The inicrosatellite analysis was evaluated by PCR using 6 polymorphic markers for chromosomal regions 10q22.1 (D10S1146, D010S218), 10q26.13 (D10S1213), 10p13 (D10S24), 9p21.3 (D9S942), 3p14.3 (D3S1295) in 20 patients with ULMS. 38 patients with ULM were suggested as control group. Our results have demonstrated high frequency allelic imbalance in ULMS samples (average frequency 40%). The comparative analysis between 2 studied groups of patients has been shown higher frequencies of genetic changes for ULMS. Specificity and sensitivity of the LOH and/or MI markers scores 92 and 95% accordingly.

摘要

子宫平滑肌肉瘤(ULMS)是一种罕见且高度恶性的平滑肌肿瘤。高增殖指数的子宫平滑肌瘤(ULM)与ULMS之间的鉴别诊断是当今病理学中的基本问题之一。我们研究了杂合性缺失(LOH)和微卫星不稳定性(MI),以找出ULM和ULMS之间的基因差异。通过聚合酶链反应(PCR),使用针对染色体区域10q22.1(D10S1146、D10S218)、10q26.13(D10S1213)、10p13(D10S24)、9p21.3(D9S942)、3p14.3(D3S1295)的6个多态性标记,对20例ULMS患者进行微卫星分析。建议将38例ULM患者作为对照组。我们的结果显示,ULMS样本中高频等位基因失衡(平均频率为40%)。两组研究患者之间的比较分析表明,ULMS的基因变化频率更高。LOH和/或MI标记的特异性和敏感性分别为92%和95%。

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