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Updated: Jun 2, 2026

An Orthotopic Murine Model of Human Prostate Cancer Metastasis
Published on: September 18, 2013
MITF Gain-of-Function Mutation in Metastatic Prostate Cancer: A Rare Finding With Potential Therapeutic Significance
Paul J Pecorin1, Nyembezi Dhliwayo2, Matthew Demetrious3
1Division of General Internal Medicine, Department of Medicine, Rush University Medical Center, Chicago, Illinois, USA.
Background:
Prostate cancer is the most common non-cutaneous malignancy in men and remains a leading cause of cancer-related mortality, particularly in aggressive variants. These tumors are usually associated with alterations in TP53, RB1, and PTEN. The microphthalmia-associated transcription factor (MITF) has been implicated in several malignancies, but its role in prostate cancer is less defined.
Case:
We report the first case of metastatic prostate adenocarcinoma harboring a gain-of-function MITF E318K mutation. The patient presented with high tumor burden, rapid progression, and evidence of tumor heterogeneity. The E318K mutation, previously linked to melanoma and renal cell carcinoma, enhances MITF transcriptional activity and may contribute to aggressive disease behavior.
Conclusion:
This case expands current understanding of MITF in prostate cancer and raises important questions regarding its prognostic and therapeutic significance.
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