NF2 -mutated Renal Cell Carcinoma: Clinicopathologic and Molecular Characterization of Two Additional Tumors Highlighting Morphologic Heterogeneity and Potential Aggressive Behavior.
Ming Zhao, Juanjuan Wang, Suying Wang et al.
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Case in brief
Two female patients in their sixth decade presented with incidental solid renal masses measuring 3.2 cm and 3.0 cm. Both tumors exhibited high-grade nuclei and infiltrative growth, but with distinct architectural features. Tumor #1 displayed solid nests and a biphasic pattern, while tumor #2 had elongated tubulotrabeculae. Both tumors harbored pathogenic NF2 mutations, with patient #1 developing widespread metastases within 7 months, while patient #2 remains disease-free.
What made this case unusual
The distinct architectural variations between the two NF2-mutated renal cell carcinomas, including a biphasic pattern in one and elongated tubulotrabeculae in the other, highlight the morphological heterogeneity associated with this mutation.
Diagnostic / clinical pearl
Clinicians should consider NF2 mutations in renal cell carcinomas exhibiting high-grade morphology and infiltrative growth, as these may indicate aggressive behavior and necessitate an integrated diagnostic approach.
Why it matters
Understanding the morphological diversity and molecular characteristics of NF2-mutated renal cell carcinomas is essential for accurate diagnosis and may influence treatment strategies, including the use of immune checkpoint inhibitors.