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Case Report

Fumarate hydratase-deficient renal cell carcinoma arising in acquired cystic kidney disease in a hemodialysis patient: Diagnostic clues from percutaneous renal mass core needle biopsy: A case report

  • Authors:
    • Yuki Oba
    • Hisashi Kamido
    • Kei Kono
    • Katsuyuki Miki
    • Shinji Ito
    • Akinari Sekine
    • Shigekazu Kurihara
    • Masayuki Yamanouchi
    • Tatsuya Suwabe
    • Yutaka Takazawa
    • Kenichi Ohashi
    • Yoji Nagashima
    • Yuki Nakamura
    • Yoshifumi Ubara
    • Naoki Sawa

  • View Affiliations / Copyright

    Affiliations: Nephrology Center, Toranomon Hospital Kajigaya, Kawasaki, Kanagawa 213-8587, Japan, Department of Pathology, Toranomon Hospital, Tokyo 105-8470, Japan, Department of Surgical Pathology, Tokyo Women's Medical University Hospital, Tokyo 162-8666, Japan
  • Article Number: 37
    |
    Published online on: November 18, 2025
       https://doi.org/10.3892/ol.2025.15389
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Abstract

A 76-year-old male patient with a 30-year history of dialysis presented with persistent fever and hematuria. Computed tomography and magnetic resonance imaging suggested a cyst infection associated with acquired cystic kidney disease. Although cyst drainage was planned, ultrasonography incidentally detected a solid mass within the kidney cyst, prompting a switch from drainage to percutaneous biopsy. Histopathological examination revealed fumarate hydratase-deficient renal cell carcinoma, and nephrectomy was performed. Diagnosis of dialysis-associated renal carcinoma relies on imaging techniques. However, it can be difficult to identify malignant tumors in a polycystic kidney using imaging alone, and pathological confirmation by biopsy is often required. The present report highlights the usefulness of performing needle biopsy for suspected masses using the same method that is used by nephrologists for kidney biopsy in cases in which determining the lesion nature from imaging alone is difficult and in hydratase-deficient renal cell carcinoma arising in acquired cystic kidney disease as a dialysis-associated renal carcinoma.
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Figure 1

Kidney imaging findings. (A) Abdominal X-ray image after renal transcatheter artery embolization with platinum microcoils. The left kidney only was embolized due to renal artery stenosis in the right kidney. (B) Contrast-enhanced CT image. The cyst wall of the right kidney appears thickened (arrowhead). (C-E) MRI images of the kidney. The cyst was shown with decreased diffusion intensity in (C) DWI, slightly high intensity in (D) T1WI, and low intensity in (E) T2WI (arrowhead). (F) Ultrasound image of the right kidney: A highly echoic mass (~4 cm in diameter) was identified in the cyst (arrowhead). CT, computed tomography; DWI, diffusion-weighted imaging; T1WI, T1-weighted imaging; T2WI, T2-weighted imaging.

Figure 2

Needle biopsy procedure of the right kidney mass. (A) The patient was laying in left lateral position for the biopsy. (B) The renal mass biopsy was performed under echo-guidance using a biopsy gun, which is usually used in kidney biopsy. (C) Specimen of the renal mass in the cyst. Six cores were collected. (D-F) Light microscopy of the biopsy specimens showed renal cell carcinoma with cribriform invasive growth. (D) Low-magnification image of the whole specimens (H&E staining). Scale bar, 1 mm. (E) The tumor exhibited a mixed cellular pattern: Some cells had prominent atypical nuclei and clear cytoplasm, while others were small and round with surrounding eosinophilic macronucleoli and gritty calcification (H&E staining). Scale bar, 100 µm. (F) Immunohistochemistry showed positive nuclear expression of PAX8. Scale bar, 200 µm. PAX8, paired box 8.

Figure 3

Nephrectomy findings. (A) Macroscopic finding of the kidney. A white, nodular and solid tumor (6.5×5.6×4.5 cm) was present at the upper pole of the kidney. Numerous small to medium-sized cysts with gelatinous contents were observed in the kidney. (B) Low power view of the renal mass (H&E staining). The tumor lacked a pseudo-capsule, grew infiltratively, and exhibited papillary, adenoductal and solid architecture. Scale bar, 200 µm. (C) High power view of the renal mass (H&E staining). The tumor cell nuclei were round and highly atypical, and the cytoplasm was clear. Eosinophilic and amorphous material was evident in the papillary architecture. Some microcalcifications were present. Scale bar, 50 µm. (D) Immunohistochemical staining showing positive expression of AMACR. (E) Immunohistochemical staining showing positive expression of FH. (F) Immunohistochemical staining showing positive expression of 2SC. Scale bar, 50 µm. 2SC, S-2-succinylated-cystaine; AMACR, α-methylacyl-CoA racemase; FH, fumarate hydratase.
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Copy and paste a formatted citation
Spandidos Publications style
Oba Y, Kamido H, Kono K, Miki K, Ito S, Sekine A, Kurihara S, Yamanouchi M, Suwabe T, Takazawa Y, Takazawa Y, et al: Fumarate hydratase-deficient renal cell carcinoma arising in acquired cystic kidney disease in a hemodialysis patient: Diagnostic clues from percutaneous renal mass core needle biopsy: A case report. Oncol Lett 31: 37, 2026.
APA
Oba, Y., Kamido, H., Kono, K., Miki, K., Ito, S., Sekine, A. ... Sawa, N. (2026). Fumarate hydratase-deficient renal cell carcinoma arising in acquired cystic kidney disease in a hemodialysis patient: Diagnostic clues from percutaneous renal mass core needle biopsy: A case report. Oncology Letters, 31, 37. https://doi.org/10.3892/ol.2025.15389
MLA
Oba, Y., Kamido, H., Kono, K., Miki, K., Ito, S., Sekine, A., Kurihara, S., Yamanouchi, M., Suwabe, T., Takazawa, Y., Ohashi, K., Nagashima, Y., Nakamura, Y., Ubara, Y., Sawa, N."Fumarate hydratase-deficient renal cell carcinoma arising in acquired cystic kidney disease in a hemodialysis patient: Diagnostic clues from percutaneous renal mass core needle biopsy: A case report". Oncology Letters 31.1 (2026): 37.
Chicago
Oba, Y., Kamido, H., Kono, K., Miki, K., Ito, S., Sekine, A., Kurihara, S., Yamanouchi, M., Suwabe, T., Takazawa, Y., Ohashi, K., Nagashima, Y., Nakamura, Y., Ubara, Y., Sawa, N."Fumarate hydratase-deficient renal cell carcinoma arising in acquired cystic kidney disease in a hemodialysis patient: Diagnostic clues from percutaneous renal mass core needle biopsy: A case report". Oncology Letters 31, no. 1 (2026): 37. https://doi.org/10.3892/ol.2025.15389
Copy and paste a formatted citation
x
Spandidos Publications style
Oba Y, Kamido H, Kono K, Miki K, Ito S, Sekine A, Kurihara S, Yamanouchi M, Suwabe T, Takazawa Y, Takazawa Y, et al: Fumarate hydratase-deficient renal cell carcinoma arising in acquired cystic kidney disease in a hemodialysis patient: Diagnostic clues from percutaneous renal mass core needle biopsy: A case report. Oncol Lett 31: 37, 2026.
APA
Oba, Y., Kamido, H., Kono, K., Miki, K., Ito, S., Sekine, A. ... Sawa, N. (2026). Fumarate hydratase-deficient renal cell carcinoma arising in acquired cystic kidney disease in a hemodialysis patient: Diagnostic clues from percutaneous renal mass core needle biopsy: A case report. Oncology Letters, 31, 37. https://doi.org/10.3892/ol.2025.15389
MLA
Oba, Y., Kamido, H., Kono, K., Miki, K., Ito, S., Sekine, A., Kurihara, S., Yamanouchi, M., Suwabe, T., Takazawa, Y., Ohashi, K., Nagashima, Y., Nakamura, Y., Ubara, Y., Sawa, N."Fumarate hydratase-deficient renal cell carcinoma arising in acquired cystic kidney disease in a hemodialysis patient: Diagnostic clues from percutaneous renal mass core needle biopsy: A case report". Oncology Letters 31.1 (2026): 37.
Chicago
Oba, Y., Kamido, H., Kono, K., Miki, K., Ito, S., Sekine, A., Kurihara, S., Yamanouchi, M., Suwabe, T., Takazawa, Y., Ohashi, K., Nagashima, Y., Nakamura, Y., Ubara, Y., Sawa, N."Fumarate hydratase-deficient renal cell carcinoma arising in acquired cystic kidney disease in a hemodialysis patient: Diagnostic clues from percutaneous renal mass core needle biopsy: A case report". Oncology Letters 31, no. 1 (2026): 37. https://doi.org/10.3892/ol.2025.15389
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