Abstract
In the context of metastatic renal cell carcinoma, it would typically be assumed that the site of recurrence is derived from the original tumor. Through the use of comprehensive genomic profiling in a case of localized disease with a subsequent recurrence in the renal fossa, we determined that the latter was a wholly distinct tumor. The original tumor harbors mutations in PBRM1, while the second harbors mutations in KDM5C. These findings, if further validated, could prompt caution in interpretation of genomic tests used for risk stratification and could have implications for ongoing studies of adjuvant therapy.
Keywords:
Comprehensive genomic profiling; Recurrence; Renal cell carcinoma.
Copyright © 2016 European Association of Urology. Published by Elsevier B.V. All rights reserved.
MeSH terms
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Adenocarcinoma / pathology
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Adenocarcinoma / surgery
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Carcinoma, Renal Cell / diagnostic imaging
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Carcinoma, Renal Cell / genetics*
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Carcinoma, Renal Cell / pathology
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Carcinoma, Renal Cell / surgery
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DNA-Binding Proteins
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Genomics / methods*
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Histone Demethylases / genetics
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Humans
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Kidney Neoplasms / diagnostic imaging
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Kidney Neoplasms / genetics*
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Kidney Neoplasms / pathology
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Kidney Neoplasms / surgery
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Male
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Middle Aged
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Mutation / genetics
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Neoplasm Grading
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Neoplasm Recurrence, Local / genetics*
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Neoplasm Recurrence, Local / pathology
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Nephrectomy / methods
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Nuclear Proteins / genetics
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Prostate-Specific Antigen
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Prostatectomy / methods
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Prostatic Neoplasms / diagnostic imaging
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Prostatic Neoplasms / pathology
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Prostatic Neoplasms / surgery
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Transcription Factors / genetics
Substances
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DNA-Binding Proteins
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Nuclear Proteins
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PBRM1 protein, human
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Transcription Factors
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Histone Demethylases
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KDM5C protein, human
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Prostate-Specific Antigen