Zhang Luxin, Li Haozhen, Tong Heyao, Cui Hepeng, Guo Huahang, Wen Shuang, Song Zhuwei, Chen Jiaqiang, Xiang Shengxiang, Liu Zhiyu, Fan Bo, Wang Liang
Department of Urology, Second Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, China.
Liaoning Provincial Key Laboratory of Urological Digital Precision Diagnosis and Treatment, Dalian, Liaoning, China.
Front Immunol. 2025 May 9;16:1554203. doi: 10.3389/fimmu.2025.1554203. eCollection 2025.
Renal anastomosing hemangioma (RAH) is a rare benign renal tumor, and its clinicopathologic characteristics and genetic mutation spectrum related to its mechanisms of pathogenesis are unclear.
We carried out whole-genome sequencing (WGS) on RAH samples to explore the genetic mutation spectrum and verified the results by Sanger sequencing. Immunohistochemical analysis was also performed to reveal the histopathological characteristics and the tumor microenvironment components. Moreover, a population-based study was conducted after searching the PubMed, EMBASE, and Ovid SP databases to systematically summarize the clinicopathologic features of patients with RAH.
WGS analysis revealed 10532 somatic single-nucleotide variants (SNVs), 6705 somatic insertions and deletions (INDELs), and mutations in 32 predisposing genes and 10 driver genes, among which the mutations in 8 of the predisposing genes, , , , , , , , and , and the mutation site in the driver gene were confirmed by Sanger sequencing. Moreover, the immunohistochemical profile of the tumor microenvironment revealed that the expression content of tumor-associated macrophages (CD163, CD68) and fibroblasts (SMA) differs between cancerous and precancerous tissues which may regulate the disease development. On the basis of our population-based analysis, we summarized the clinicopathological features of 100 patients with RAH and identified significant differences in age (=0.001), tumor site (<0.001), tumor focality (<0.001), largest tumor diameter (=0.001) and surgical approach (=0.010) between patients with RAH with end-stage renal disease (ESRD) and those without ESRD.
The distinct phenotypes of RAH may be associated with the different genetic mutation spectra identified in our study. The presence or absence of comorbid ESRD varies among patients with RAH. However, additional studies are required to validate our results.
肾吻合性血管瘤（RAH）是一种罕见的良性肾肿瘤，其临床病理特征以及与发病机制相关的基因突变谱尚不清楚。
我们对RAH样本进行了全基因组测序（WGS）以探索基因突变谱，并通过桑格测序验证结果。还进行了免疫组织化学分析以揭示组织病理学特征和肿瘤微环境成分。此外，在检索PubMed、EMBASE和Ovid SP数据库后进行了一项基于人群的研究，以系统总结RAH患者的临床病理特征。
WGS分析揭示了10532个体细胞单核苷酸变异（SNV）、6705个体细胞插入和缺失（INDEL），以及32个易感基因和10个驱动基因中的突变，其中8个易感基因（分别为……此处原文未完整列出基因名称）的突变以及驱动基因中的突变位点通过桑格测序得到证实。此外，肿瘤微环境的免疫组织化学图谱显示，癌组织和癌前组织中肿瘤相关巨噬细胞（CD163、CD68）和成纤维细胞（SMA）的表达含量不同，这可能调节疾病发展。基于我们的人群分析，我们总结了100例RAH患者的临床病理特征，并确定了终末期肾病（ESRD）患者和非ESRD患者在年龄（P = 0.001）、肿瘤部位（P < 0.001）、肿瘤灶性（P < 0.001）、最大肿瘤直径（P = 0.001）和手术方式（P = 0.010）方面存在显著差异。
RAH的不同表型可能与我们研究中确定的不同基因突变谱相关。RAH患者中是否存在ESRD合并症各不相同。然而，需要进一步的研究来验证我们的结果。
