Molecular profiling of renal cell carcinoma presenting as iris metastasis
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...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-09-01
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| Series: | American Journal of Ophthalmology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993622003450 |
| _version_ | 1828254753498333184 |
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| author | Osorio Lopes Abath Neto Zachary A. Koretz Abigail I. Wald Pamela P. Rath Marina Nikiforova Charleen T. Chu |
| author_facet | Osorio Lopes Abath Neto Zachary A. Koretz Abigail I. Wald Pamela P. Rath Marina Nikiforova Charleen T. Chu |
| author_sort | Osorio Lopes Abath Neto |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T02:03:48Z |
| format | Article |
| id | doaj.art-5ad655f0ce394d05a15f09c259f0566e |
| institution | Directory Open Access Journal |
| issn | 2451-9936 |
| language | English |
| last_indexed | 2024-04-13T02:03:48Z |
| publishDate | 2022-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj.art-5ad655f0ce394d05a15f09c259f0566e2022-12-22T03:07:31ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362022-09-0127101599Molecular profiling of renal cell carcinoma presenting as iris metastasisOsorio Lopes Abath Neto0Zachary A. Koretz1Abigail I. Wald2Pamela P. Rath3Marina Nikiforova4Charleen T. Chu5Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USADepartment of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USADepartment of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USAEverett & Hurite Ophthalmic Association, Pittsburgh, PA, USADepartment of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USADepartment of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Corresponding author. Department of Pathology, Division of Neuropathology, 200 Lothrop Street, Pittsburgh, PA 15213, 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.http://www.sciencedirect.com/science/article/pii/S2451993622003450Iris metastasisClear cell renal cell carcinomaTERTiris LesionTumor molecular genetics |
| spellingShingle | Osorio Lopes Abath Neto Zachary A. Koretz Abigail I. Wald Pamela P. Rath Marina Nikiforova Charleen T. Chu Molecular profiling of renal cell carcinoma presenting as iris metastasis American Journal of Ophthalmology Case Reports Iris metastasis Clear cell renal cell carcinoma TERT iris Lesion Tumor molecular genetics |
| title | Molecular profiling of renal cell carcinoma presenting as iris metastasis |
| title_full | Molecular profiling of renal cell carcinoma presenting as iris metastasis |
| title_fullStr | Molecular profiling of renal cell carcinoma presenting as iris metastasis |
| title_full_unstemmed | Molecular profiling of renal cell carcinoma presenting as iris metastasis |
| title_short | Molecular profiling of renal cell carcinoma presenting as iris metastasis |
| title_sort | molecular profiling of renal cell carcinoma presenting as iris metastasis |
| topic | Iris metastasis Clear cell renal cell carcinoma TERT iris Lesion Tumor molecular genetics |
| url | http://www.sciencedirect.com/science/article/pii/S2451993622003450 |
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