Cancer reports (Hoboken, N.J.) · 2026
MITF Gain-of-Function Mutation in Metastatic Prostate Cancer: A Rare Finding With Potential Therapeutic Significance.
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Pecorin Paul J, Dhliwayo Nyembezi, Demetrious Matthew, Cavalcante Ludimila, Rodriguez-Bravo Veronica, Domingo-Domenech Josep, Westbrook Thomas
Аннотация
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.
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.