Department of Urology, Center for Prostate Cancer, Research Institute and Hospital of National Cancer Center, Goyang, South Korea.
Department of Pathology, Center for Prostate Cancer, Hospital of National Cancer Center, Goyang, South Korea.
J Clin Pathol. 2019 Feb;72(2):152-156. doi: 10.1136/jclinpath-2018-205456. Epub 2018 Nov 8.
The aim of the present study was to determine the concordant correlation in the expression of 88 target genes from triple-paired metastatic tissues in individual patients with metastatic renal carcinoma (mRCC) using a target gene sequencing (TGS) approach.
Between 2002 and 2017, a total of 350 triple-paired metastatic tissue samples from 262 patients with mRCC obtained from either nephrectomy or metastasectomy were used for TGS of 88 candidate genes. After quality check, 243 tissue samples from 81 patients were finally applied to TGS. The concordance of triple-paired tissues was analysed with the 88 TGS panels using bioinformatics tools.
Among 81 patients, alterations were observed in 42 (51.9%) for any of the 88 mRCC panel genes; however, no pathogenic gene was detected in 38 (39.5%) . Concordance >95% for altered gene expression among the three tissues was reported in 12 (28.6%) patients, while concordance >95% within two tissues was reported in 30 (71.4%); concordance <50% was reported in the remaining eight patients. Considering several types of genetic alterations, including deletions, insertions, missense and nonsense mutations, and splice variants, genes most frequently detected with genetic alterations in the patients with mRCC were loss, followed by , , , , , , and .
The study provides reference information on the genetic alterations at various organ sites and the multi-heterogeneity of mRCC tissues. The concordance of pathogenic gene alterations within tissues was not high, and approximately half of the patients showed no pathogenic gene alterations at all.
本研究旨在使用靶向基因测序（TGS）方法，确定 262 例转移性肾细胞癌（mRCC）患者的 350 对三配对转移组织中 88 个靶基因表达的一致性相关性。
2002 年至 2017 年，共使用 262 例 mRCC 患者的 350 对三配对转移组织样本（分别来自肾切除术或转移切除术）进行 88 个候选基因的 TGS。经过质量检查，最终有 81 例患者的 243 个组织样本用于 TGS。使用生物信息学工具分析了 88 个 TGS 面板中三配对组织的一致性。
在 81 例患者中，观察到 88 个 mRCC 面板基因中的任何一个发生改变的患者有 42 例（51.9%）；然而，38 例（39.5%）未检测到致病基因。12 例（28.6%）患者的三种组织中基因表达的一致性>95%，30 例（71.4%）患者的两种组织中基因表达的一致性>95%；其余 8 例患者的一致性<50%。考虑到几种类型的遗传改变，包括缺失、插入、错义和无义突变以及剪接变体，在 mRCC 患者中最常检测到遗传改变的基因依次为、、、、、、和。
本研究为不同器官部位的遗传改变和 mRCC 组织的多异质性提供了参考信息。组织内致病基因突变的一致性不高，约有一半的患者根本没有致病基因突变。
