Molecular profiling of basal cell carcinoma of the prostate: A case report and literature review

Prostate basal cell carcinoma (BCC) is a rare pathologic variant with a poorly understood molecular profile. Here, we describe a case of prostate BCC and compare its genetic alterations to cases in the literature. After presenting with hematuria, our patient underwent definitive radical prostatectomy for his localized biopsy-proven BCC. Somatic and germline testing revealed mutations in PIK3R1, KMT2D, and NOTCH1, and MUTYH, NBN, and MSH3, respectively. Upon literature review, we found that prostate BCC mutations disrupt cell growth, epigenetic regulation, and cell fate determination. With no consensus guidelines available, experimental targeted therapies have shown promise for prostate BCC management.

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Publication Details

Journal
Urology Case Reports
Published
2025-03-01
DOI
https://doi.org/10.1016/j.eucr.2025.102993
Primary Topic
Hedgehog Signaling Pathway Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Molecular profiling of basal cell carcinoma of the prostate: A case report and literature review

Olivia Gordon, Eileen Zhang, Mohadese Behtaj, Luca Bertozzi
Urology Case Reports
Hedgehog Signaling Pathway Studies
article

Molecular profiling of basal cell carcinoma of the prostate: A case report and literature review

Olivia Gordon, Eileen Zhang, Mohadese Behtaj, Luca Bertozzi
article en

Abstract

Prostate basal cell carcinoma (BCC) is a rare pathologic variant with a poorly understood molecular profile. Here, we describe a case of prostate BCC and compare its genetic alterations to cases in the literature. After presenting with hematuria, our patient underwent definitive radical prostatectomy for his localized biopsy-proven BCC. Somatic and germline testing revealed mutations in PIK3R1, KMT2D, and NOTCH1, and MUTYH, NBN, and MSH3, respectively. Upon literature review, we found that prostate BCC mutations disrupt cell growth, epigenetic regulation, and cell fate determination. With no consensus guidelines available, experimental targeted therapies have shown promise for prostate BCC management.

Urology Case ReportsVol. 60
George Washington University (US), Washington University Medical Center (US), GW Medical Faculty Associates (US), University of Maryland, College Park (US)
Good health and well-being
Openalex Percentile: Top 97%
Hedgehog Signaling Pathway Studies
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