# Renal oncocytoma with liver metastasis: a case report with genetic analysis and literature review

**Authors:** Issa Al-kharouf, Carmen Miller, Ameer Hamza, Benyi Li, Da Zhang

PMC · DOI: 10.3389/fmed.2025.1558224 · Frontiers in Medicine · 2025-04-30

## TL;DR

A rare case of metastatic renal oncocytoma is reported, highlighting the role of genetic analysis in understanding its molecular basis and potential treatment strategies.

## Contribution

This case report provides novel insights into the genetic profile of metastatic oncocytoma through transcriptome analysis.

## Key findings

- Genomic testing revealed specific genetic alterations linked to the oncocytoma signature.
- The case highlights the importance of genomic analysis in elucidating metastatic mechanisms in rare oncocytoma cases.
- Findings suggest potential for improved diagnosis and targeted therapies in metastatic oncocytoma.

## Abstract

Oncocytomas are clinically benign tumors composed of cells with abundant granular eosinophilic cytoplasm due to a high mitochondrial content. While typically non-metastatic, rare cases of metastatic oncocytomas have been documented. This report describes a unique case involving transcriptome analysis to identify genes associated with the oncocytoma signature. A 57-year-old woman presented to the emergency department with COVID-19 pneumonia. Incidentally, a CT chest scan revealed a large mass in the left upper quadrant. Further imaging of the abdomen and pelvis identified a 14 cm left renal mass and multiple low-density hepatic lesions. A liver biopsy confirmed a PAX-8 and CD10 positive carcinoma, consistent with metastatic renal cell carcinoma. Following neoadjuvant therapy, the patient underwent a left radical nephrectomy, partial hepatectomy, and cholecystectomy. This case emphasizes the rarity of metastatic oncocytoma and the importance of genomic testing in elucidating its molecular underpinnings. By identifying specific genetic alterations linked to the oncocytoma signature, genomic analysis offers critical insights into potential mechanisms of metastasis. These findings could enhance diagnostic accuracy and guide the development of targeted therapeutic strategies in rare metastatic cases of oncocytoma.

## Linked entities

- **Proteins:** PAX8 (paired box 8), MME (membrane metalloendopeptidase)
- **Diseases:** oncocytoma (MONDO:0010795), renal cell carcinoma (MONDO:0005086)

## Full-text entities

- **Genes:** MET (MET proto-oncogene, receptor tyrosine kinase) [NCBI Gene 4233] {aka AUTS9, DA11, DFNB97, HGFR, RCCP2, c-Met}, RGPD5 (RANBP2 like and GRIP domain containing 5) [NCBI Gene 84220] {aka BS-63, BS63, HEL161, RGP5}, RGPD6 (RANBP2 like and GRIP domain containing 6) [NCBI Gene 729540] {aka RGP6, RGPD7, RanBP2L1, RanBP2L2}, PLCL1 (phospholipase C like 1 (inactive)) [NCBI Gene 5334] {aka PLCE, PLCL, PLDL1, PPP1R127, PRIP}, CDH16 (cadherin 16) [NCBI Gene 1014], RGPD2 (RANBP2 like and GRIP domain containing 2) [NCBI Gene 729857] {aka NUP358, RANBP2L2, RGP2, ranBP2-like 2}, NUP210L (nucleoporin 210 like) [NCBI Gene 91181] {aka SPGF97}, MME (membrane metalloendopeptidase) [NCBI Gene 4311] {aka CALLA, CD10, CMT2T, NEP, SCA43, SFE}, CYP4F3 (cytochrome P450 family 4 subfamily F member 3) [NCBI Gene 4051] {aka CPF3, CYP4F, CYPIVF3, LTB4H}, PAX8 (paired box 8) [NCBI Gene 7849] {aka PAX-8}, KRT7 (keratin 7) [NCBI Gene 3855] {aka CK7, K2C7, K7, SCL}, KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 3815] {aka C-Kit, CD117, MASTC, PBT, SCFR}, NUP210 (nucleoporin 210) [NCBI Gene 23225] {aka GP210, POM210}, HGF (hepatocyte growth factor) [NCBI Gene 3082] {aka DFNB39, F-TCF, HGFB, HPTA, SF}, AKT1 (AKT serine/threonine kinase 1) [NCBI Gene 207] {aka AKT, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA}, S100A1 (S100 calcium binding protein A1) [NCBI Gene 6271] {aka S100, S100-alpha, S100A}, AMACR (alpha-methylacyl-CoA racemase) [NCBI Gene 23600] {aka AMACRD, CBAS4, P504S, RACE, RM}, RGPD8 (RANBP2 like and GRIP domain containing 8) [NCBI Gene 727851] {aka RANBP2L1, RGP8, RanBP2alpha}, SDHB (succinate dehydrogenase complex iron sulfur subunit B) [NCBI Gene 6390] {aka CWS2, IP, MC2DN4, PGL4, PPGL4, SDH}, PIK3CB (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta) [NCBI Gene 5291] {aka P110BETA, PI3K, PI3KBETA, PIK3C1}, CXCR4 (C-X-C motif chemokine receptor 4) [NCBI Gene 7852] {aka CD184, D2S201E, FB22, HM89, HSY3RR, LCR1}
- **Diseases:** RO (MESH:C537750), metastatic (MESH:D000092182), chromophobe RCC (MESH:D002292), COVID-19 pneumonia (MESH:D000086382), renal mass (MESH:C536030), hepatic metastasis (MESH:D009362), pneumonia (MESH:D011014), left (MESH:D018487), oncocytic renal tumors (MESH:C535584), Oncocytomas (MESH:D018249), benign tumors (MESH:D009369), invasive tumors (MESH:D009361), Urinary and Male Genital Tumors (MESH:D005834), basal cell carcinoma (MESH:D002280), liver lesions (MESH:D008107), uveal melanoma (MESH:C536494), hepatic lesion (MESH:D056486), oncocytic renal neoplasm (MESH:D007680)
- **Chemicals:** Nivolumab (MESH:D000077594), amino acid (MESH:D000596), Axitinib (MESH:D000077784), paraffin (MESH:D010232), retinol (MESH:D014801), lipid (MESH:D008055), fatty acid (MESH:D005227), Ipilimumab (MESH:D000074324)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12075548/full.md

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12075548/full.md

## References

20 references — full list in the complete paper: https://tomesphere.com/paper/PMC12075548/full.md

---
Source: https://tomesphere.com/paper/PMC12075548