Kidney Medullary Carcinoma

We report the case of a woman with metastatic SMARCB1-deficient renal medullary carcinoma who developed acute hypoxic respiratory failure shortly after receiving combination gemcitabine and carboplatin. Discontinuation of gemcitabine and initiation of systemic steroids resulted in significant clinical improvement. This case highlights the diagnostic challenges of gemcitabine pulmonary toxicity in patients with metastatic lung disease and concurrent viral infection.

P=N/A, N=0, Available, Regeneron Pharmaceuticals

In this group, each tumour has its own genetics, whose molecular mechanisms are increasingly well understood, with fusions, tandem duplications or gene mutations which can help the pathologist to achieve to an accurate diagnosis in each morphological context. In some situations, the identification of these molecular alterations may lead to a targeted treatment.

P2, N=20, Not yet recruiting, M.D. Anderson Cancer Center | Trial primary completion date: Feb 2028 --> Jun 2028

Therapeutic advances are reshaping the management of nccRCC, with IO/TKI regimens and histology-specific therapies showing promise. Continued integration of molecular classification, rare subtype-specific trials, and international collaboration will be essential to establish evidence-based treatment standards for this diverse and understudied population.

P2, N=20, Not yet recruiting, M.D. Anderson Cancer Center

P2, N=314, Recruiting, National Cancer Institute (NCI) | Trial completion date: Feb 2026 --> Feb 2027 | Trial primary completion date: Feb 2026 --> Feb 2027

Given its highly aggressive nature, early and accurate diagnosis is crucial. Pathologists must integrate clinical history, morphological characteristics, immunophenotype for a comprehensive diagnosis.

P2, N=157, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Dec 2025 --> Dec 2028 | Trial primary completion date: Dec 2025 --> Dec 2028

RMC should be considered in the differential diagnosis of renal tumors in young patients. The patient was managed by the medical oncology team and was treated with chemotherapy and radiation but subsequently developed multiple metastases and passed away three years after the initial disease diagnosis.

P2, N=134, Active, not recruiting, National Cancer Institute (NCI) | Recruiting --> Active, not recruiting

Although they account for only about 5% of RCC, they are clinically significant due to distinctive biology, frequent diagnostic pitfalls, and therapeutic implications. Many pathology laboratories lack immediate access to fluorescence in situ hybridization (FISH) or next-generation sequencing (NGS) to confirm MDRC; this review emphasizes morphologic recognition and immunohistochemical surrogates, followed by rational triage for ancillary testing when available.