AI Article Synopsis

  • - A new type of oncocytic renal tumor has been identified that appears aggressive under a microscope but is clinically less harmful, featuring mutations in the mTOR gene.
  • - The study involved three patients with metastases in lymph nodes, skull, and liver, whose tumors showed specific histological features, including eosinophilic cells and unique expressions in immunohistochemistry.
  • - One patient's tumor responded to treatment with Everolimus (an mTOR inhibitor), indicating these tumors may have malignant potential despite their indolent behavior and could benefit from targeted therapies.

Article Abstract

In the spectrum of oncocytic renal neoplasms, a subset of tumors with high-grade-appearing histologic features harboring pathogenic mutations in mammalian target of rapamycin (mTOR) and hitherto clinical indolent behavior has been described. Three cases (2F,1 M) with histologically documented metastases (lymph node, skull, and liver) were retrieved and extensively investigated by immunohistochemistry, FISH, and next-generation sequencing. Tumors were composed of eosinophilic cells with prominent nucleoli (G3 by ISUP/WHO) arranged in solid to nested architecture. Additionally, there were larger cells with perinuclear cytoplasmic shrinkage and sparse basophilic Nissl-like granules, superficially resembling the so-called spider cells of cardiac rhabdomyomas. The renal tumors, including the skull and liver metastases, showed immunoexpression PAX8, CK8-18, and cathepsin-K, and negativity for vimentin. NGS identified mTOR genetic alterations in the three cases, including the skull and liver metastases. One patient was then treated with Everolimus (mTOR inhibitors) with clinical response (metastatic tumor shrinkage). We present a distinct renal tumor characterized by high-grade eosinophilic cells, cathepsin-K immunohistochemical expression, and harboring mTOR gene mutations demonstrating a malignant potential and showing responsiveness to mTOR inhibitors.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10700445PMC
http://dx.doi.org/10.1007/s00428-023-03688-2DOI Listing

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