{
  "abstract": "Fumarate hydratase-deficient renal cell carcinoma (FH-dRCC) is a rare, aggressive subtype that is recognized as its own distinct entity in the 2022 WHO classification. It is frequently misclassified as papillary renal cell carcinoma (RCC). Older-onset disease and management in patients with a solitary kidney and chronic kidney disease (CKD) are not well characterized. A 76-year-old man with a remote right nephrectomy for clear cell RCC and stage 3b CKD presented with two to three years of progressive fatigue. Imaging of the solitary left kidney showed a 4.5-5.2 cm upper-pole mass with bulky retroperitoneal, mediastinal, and hilar adenopathy with multiple pulmonary nodules. Core biopsy findings were initially read as papillary RCC; however, the extensive metastatic burden appeared disproportionate to the relatively modest renal primary. Re-review demonstrated loss of FH on immunohistochemistry, and tumor sequencing confirmed a pathogenic FH p.G397R missense variant with programmed death-ligand 1 (PD-L1) tumor proportion score 20%, revising the diagnosis to FH-dRCC (cT1bN1M1). Cytoreductive nephrectomy was not pursued because of the patient's solitary-kidney status, baseline CKD, and disease burden. First-line nivolumab plus cabozantinib was selected; therapy was briefly held for immune-related uveitis, then resumed. This case highlights two important issues: metastatic burden disproportionate to primary tumor size - especially in tumors initially labeled papillary RCC - warrants pathology re-review with FH immunohistochemistry; and a solitary kidney with CKD reshapes the surgical and systemic-therapy calculus in FH-dRCC. Onco-nephrology input is valuable when balancing nephrotoxicity, contrast exposure, and disease-directed therapy.",
  "abstract_shown": true,
  "affiliations": [
    "Medical School, Michigan State University College of Osteopathic Medicine, East Lansing, USA.",
    "Department of Internal Medicine, University of Michigan Health-Sparrow Hospital/Michigan State University (MSU), Lansing, USA.",
    "Department of Hematology and Oncology, McLaren Greater Lansing, Lansing, USA."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Soumith Sanka"
    },
    {
      "affs": [
        1
      ],
      "name": "Sai Sushrutha Mudupula Vemula"
    },
    {
      "affs": [
        1
      ],
      "name": "Ankit Kulkarni"
    },
    {
      "affs": [
        2
      ],
      "name": "Ujwala Koduru"
    },
    {
      "affs": [
        2
      ],
      "name": "Borys Hrinczenko"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/20eftj7t1v822.bib",
  "cited_by": 0,
  "doi": "10.7759/cureus.116800",
  "fulltext_url": "https://europepmc.org/articles/PMC13694205",
  "id": "20eftj7t1v822",
  "issns": [
    "2168-8184"
  ],
  "landing_url": "https://europepmc.org/article/MED/42927048",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2740|Renal cell carcinoma treatment"
    ]
  ],
  "openalex": "W7214067880",
  "pdf_url": "https://europepmc.org/articles/PMC13694205?pdf=render",
  "pmcid": "PMC13694205",
  "pmid": "42927048",
  "published": "2026-09-23",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/20eftj7t1v822.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:21:18Z",
      "native_id": "MED:42927048",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42927048"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2740|Renal cell carcinoma treatment",
      "subfield": "general"
    }
  ],
  "title": "Fumarate Hydratase-Deficient Renal Cell Carcinoma in a Solitary Kidney: Diagnostic Pitfalls and Onco-Nephrology Constraints in an Older Adult With Chronic Kidney Disease.",
  "title_text": "Fumarate Hydratase-Deficient Renal Cell Carcinoma in a Solitary Kidney: Diagnostic Pitfalls and Onco-Nephrology Constraints in an Older Adult With Chronic Kidney Disease.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:21:18Z",
  "url": "https://research.draconitic.com/paper/20eftj7t1v822",
  "venue": "Cureus",
  "versions": []
}