Chromophobe renal cell carcinoma with sarcomatoid change: A case report

Ahn,Ae Ri; Noh,Sang Jae; Jeong,Young Bum; Kim,Kyoung Min

doi:10.3892/ol.2025.15117

Chromophobe renal cell carcinoma with sarcomatoid change: A case report

Authors:
- Ae Ri Ahn
- Sang Jae Noh
- Young Bum Jeong
- Kyoung Min Kim
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Affiliations: 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, Department of Urology, 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
Published online on: May 28, 2025 https://doi.org/10.3892/ol.2025.15117
Article Number: 371
Copyright: © Ahn et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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 RNF46 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 MET 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.

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