Ahn Ae Ri, Noh Sang Jae, Jeong Young Bum, Kim Kyoung Min
Department of Pathology, Research Institute of Clinical Medicine of Jeonbuk National University, Biomedical Research Institute of Jeonbuk National University Hospital, Research Institute for Endocrine Sciences, Jeonbuk National University Medical School, Jeonju, Jeollabuk-do 54907, Republic of Korea.
Department of Forensic Medicine, Research Institute of Clinical Medicine of Jeonbuk National University, Biomedical Research Institute of Jeonbuk National University Hospital, Research Institute for Endocrine Sciences, Jeonbuk National University Medical School, Jeonju, Jeollabuk-do 54907, Republic of Korea.
Oncol Lett. 2025 May 28;30(1):371. doi: 10.3892/ol.2025.15117. eCollection 2025 Jul.
Chromophobe renal cell carcinoma (ChRCC) is a rare type of kidney cancer that is generally associated with a favorable prognosis. By contrast, RCC with sarcomatoid transformation exhibits a more aggressive clinical course, with its pathogenesis remaining largely unclear. The present study reports a case of ChRCC with sarcomatoid changes. A 54-year-old woman presented to the Department of Urology for evaluation of an incidentally detected left renal mass. Histological examination of the resected tumor revealed two distinct components: One with conventional ChRCC morphology and the other comprising highly pleomorphic, poorly differentiated cells. Next-generation sequencing of the two components revealed chromosomal losses in multiple chromosomes and variations in the gene. Based on these findings, a final diagnosis of ChRCC with sarcomatoid changes was made. Although the two components shared some genetic changes, differences were also noted. The sarcomatoid area change carried chromosomal gain, single nucleotide variants and fusion compared with the conventional ChRCC component. Furthermore, while programmed cell death ligand 1 expression was negative in the conventional ChRCC component, >10% of the tumor cells in the sarcomatoid component were positive. Overall, the present case reveals novel genetic and immunohistochemical features of ChRCC with sarcomatoid changes.
嫌色性肾细胞癌(ChRCC)是一种罕见的肾癌类型,通常预后良好。相比之下,具有肉瘤样转化的肾细胞癌临床病程更具侵袭性,其发病机制在很大程度上仍不清楚。本研究报告了一例具有肉瘤样改变的ChRCC病例。一名54岁女性因偶然发现左肾肿块就诊于泌尿外科。对切除肿瘤的组织学检查显示有两个不同的成分:一个具有传统ChRCC形态,另一个由高度多形性、低分化细胞组成。对这两个成分进行二代测序发现多个染色体存在染色体缺失以及基因变异。基于这些发现,最终诊断为具有肉瘤样改变的ChRCC。虽然这两个成分有一些共同的基因变化,但也存在差异。与传统ChRCC成分相比,肉瘤样区域变化存在染色体增加、单核苷酸变异和融合。此外,程序性细胞死亡配体1在传统ChRCC成分中表达为阴性,而在肉瘤样成分中>10%的肿瘤细胞呈阳性表达。总体而言,本病例揭示了具有肉瘤样改变的ChRCC新的基因和免疫组化特征。