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微卫星分析在鉴别肾血管平滑肌脂肪瘤起源和累及区域淋巴结中的应用。

Microsatellite analysis for differentiating the origin of renal angiomyolipoma and involved regional lymph node.

机构信息

Department of Urology, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China.

Institute of Urology, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China.

出版信息

Sci Rep. 2017 Mar 23;7(1):362. doi: 10.1038/s41598-017-00460-w.

Abstract

Renal angiomyolipoma (AML) with the regional lymph node (LN) involved leads to a question of metastasis versus multicentric origin when their histology are similar. As the genomic instability is a common feature of cancer, we hypothesized that independently arising neoplasms in an individual patient would exhibit measurable genomic variation, facilitating the discrimination of tumor lineage and relatedness. Our study enrolled 12 patients who were diagnosed with nodal-involved renal AML at West China Hospital. Genomic DNA from kidney and lymph node lesion from individuals was analyzed through PCR-based analysis which using six microsatellite markers to identify discordant allelic variation. The results showed all 12 patients underwent surgical treatment and none suffered local recurrence or distant metastasis during the follow-up. Ten patients of the included cases showed a consistent trend that all corresponding to six microsatellite markers were detected in DNA from renal AMLs but were reduced or not observed in DNA from the paired LN. With this technique, a possible lineage relationship cannot be excluded between renal AMLs and LN. Thus when enlarged LN were found in images, active surveillance should be taken into consider; if enlarged LN were found intraoperatively, LN resection might be necessary to demonstrate their pathological nature.

摘要

肾血管平滑肌脂肪瘤(AML)伴区域淋巴结(LN)受累,当组织学相似时,会导致转移与多中心起源的问题。由于基因组不稳定性是癌症的一个共同特征,我们假设个体患者中独立发生的肿瘤会表现出可测量的基因组变异,从而有助于区分肿瘤谱系和相关性。我们的研究纳入了 12 名在华西医院诊断为淋巴结受累肾 AML 的患者。通过基于 PCR 的分析,使用 6 个微卫星标记物来识别不一致的等位基因变异,分析个体肾脏和淋巴结病变的基因组 DNA。结果显示,所有 12 名患者均接受了手术治疗,在随访期间无局部复发或远处转移。纳入的 10 例患者均表现出一致的趋势,即所有与 6 个微卫星标记物对应的标记物均在肾 AML 中的 DNA 中检测到,但在配对 LN 的 DNA 中减少或未观察到。通过这项技术,不能排除肾 AML 和 LN 之间可能存在谱系关系。因此,当影像学检查发现 LNs 增大时,应考虑进行积极监测;如果术中发现 LNs 增大,可能需要切除 LNs 以明确其病理性质。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14e7/5428456/6e92cbc7ef2d/41598_2017_460_Fig1_HTML.jpg

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