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Updated: Sep 20, 2025
The Use of Reverse Phase Protein Arrays RPPA to Explore Protein Expression Variation within Individual Renal Cell Cancers
Published on: January 22, 2013
Molecular profiling of renal cell carcinoma presenting as iris metastasis
Osorio Lopes Abath Neto1, Zachary A Koretz2, Abigail I Wald1
1Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Purpose:
To describe a case of iris metastasis as the initial presentation of clear cell renal cell carcinoma, and to discuss molecular profiling of both the metastasis and primary kidney tumor.
Observations:
We report a patient with blurred vision who underwent ophthalmic examination and was found to have an iris mass, which was excised and diagnosed as a metastatic clear cell renal cell carcinoma by morphology and immunohistochemical analysis. As a result of the pathology findings, computed tomography imaging was performed, revealing a right kidney mass, which was also resected and shown to represent a high-grade carcinoma confined within the renal fascia without lymphovascular invasion. Molecular testing of the primary and metastatic tumors using a custom next-generation sequencing panel revealed similar mutational profiles but disclosed a TERT promoter mutation in the primary neoplasm, not present in the metastasis, suggesting seeding of an early lower grade neoplastic cell clone within the iris.
Conclusions And Importance:
This report illustrates how pathological examination of a small iris lesion led to the discovery of a previously unknown systemic malignancy at a resectable stage. Molecular genetic profiling revealed that even lower grade clones within a high-grade neoplasm have metastatic potential.
Insights
An iris mass revealed metastatic clear cell renal cell carcinoma (ccRCC). Molecular analysis of the primary kidney tumor and iris metastasis showed similar profiles, with a TERT promoter mutation in the primary tumor only.
Area of Science:
- Ophthalmology
- Oncology
- Genetics
Background:
- Clear cell renal cell carcinoma (ccRCC) is the most common type of kidney cancer.
- Metastasis to the eye, particularly the iris, is a rare initial presentation of ccRCC.
- Early detection of metastatic disease is crucial for patient outcomes.
Observation:
- A patient presented with blurred vision due to an iris mass.
- Histopathological and immunohistochemical analysis confirmed metastatic ccRCC.
- Subsequent imaging identified a primary renal mass consistent with ccRCC.
Findings:
- Molecular profiling of both primary and metastatic tumors revealed comparable mutational landscapes.
- A TERT promoter mutation was identified in the primary renal tumor but absent in the iris metastasis.
- This suggests that an early, lower-grade clone within the primary tumor possessed metastatic potential.
Implications:
- Ophthalmic examination can lead to the early diagnosis of previously undetected systemic malignancies.
- Molecular genetic analysis provides insights into tumor evolution and metastatic mechanisms.
- Even lower-grade clones within a high-grade neoplasm can exhibit metastatic potential, highlighting the importance of comprehensive molecular profiling.
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