Molecular profiling of renal cell carcinoma presenting as iris metastasis

Osorio Lopes Abath Neto; Zachary A. Koretz; Abigail I. Wald; Pamela P. Rath; Marina Nikiforova; Charleen T. Chu

doi:10.1016/j.ajoc.2022.101599

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Molecular profiling of renal cell carcinoma presenting as iris metastasis

Journal article

Open access

Peer reviewed

Molecular profiling of renal cell carcinoma presenting as iris metastasis

Osorio Lopes Abath Neto, Zachary A. Koretz, Abigail I. Wald, Pamela P. Rath, Marina Nikiforova and Charleen T. Chu

American journal of ophthalmology case reports, Vol.27, p.101599

09/2022

DOI: 10.1016/j.ajoc.2022.101599

PMCID: PMC9157370

PMID: 35664447

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Abstract

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. 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. 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.

Clear cell renal cell carcinoma

iris Lesion

Iris metastasis

TERT

Tumor molecular genetics

Details

Title: Subtitle: Molecular profiling of renal cell carcinoma presenting as iris metastasis
Creators: Osorio Lopes Abath Neto - University of Pittsburgh School of Medicine
Zachary A. Koretz - University of Pittsburgh School of Medicine
Abigail I. Wald - University of Pittsburgh School of Medicine
Pamela P. Rath - Everett & Hurite Ophthalmic Association, Pittsburgh, PA, USA
Marina Nikiforova - University of Pittsburgh School of Medicine
Charleen T. Chu - University of Pittsburgh School of Medicine
Resource Type: Journal article
Publication Details: American journal of ophthalmology case reports, Vol.27, p.101599
DOI: 10.1016/j.ajoc.2022.101599
PMID: 35664447
PMCID: PMC9157370
NLM abbreviation: Am J Ophthalmol Case Rep
ISSN: 2451-9936
eISSN: 2451-9936
Publisher: Elsevier Inc
Language: English
Date published: 09/2022
Academic Unit: Pathology
Record Identifier: 9984276451202771

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