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

**Authors:** Luca Bertozzi, Eileen Zhang, Mohadese Behtaj, Olivia Gordon, Michael J. Whalen

PMC · DOI: 10.1016/j.eucr.2025.102993 · Urology Case Reports · 2025-03-01

## TL;DR

This paper reports a case of rare prostate basal cell carcinoma and explores its genetic profile and potential treatment options.

## Contribution

The study identifies specific genetic mutations in prostate BCC and suggests targeted therapies as a treatment approach.

## Key findings

- Prostate BCC has mutations in genes like PIK3R1, KMT2D, and NOTCH1.
- Genomic alterations in prostate BCC affect cell growth, epigenetic regulation, and cell fate.
- Targeted therapies may be effective for prostate BCC with actionable molecular targets.

## 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.

•Basal cell carcinoma (BCC) is a rare form of prostate cancer.•Prostate-specific antigen may not be a reliable surveillance method for prostate BCC.•Prostate BCC has genomic alterations that disrupt cell growth and differentiation.•Targeted therapies may treat prostate BCC cases with actionable molecular targets.

Basal cell carcinoma (BCC) is a rare form of prostate cancer.

Prostate-specific antigen may not be a reliable surveillance method for prostate BCC.

Prostate BCC has genomic alterations that disrupt cell growth and differentiation.

Targeted therapies may treat prostate BCC cases with actionable molecular targets.

## Linked entities

- **Genes:** PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1) [NCBI Gene 5295], KMT2D (lysine methyltransferase 2D) [NCBI Gene 8085], NOTCH1 (notch receptor 1) [NCBI Gene 4851], MUTYH (mutY DNA glycosylase) [NCBI Gene 4595], NBN (nibrin) [NCBI Gene 4683], MSH3 (mutS homolog 3) [NCBI Gene 4437]
- **Diseases:** basal cell carcinoma (MONDO:0005341), prostate cancer (MONDO:0005159)

## Full-text entities

- **Genes:** NOTCH1 (notch receptor 1) [NCBI Gene 4851] {aka AOS5, AOVD1, TAN1, hN1}, MSH3 (mutS homolog 3) [NCBI Gene 4437] {aka DUP, FAP4, MRP1}, PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1) [NCBI Gene 5295] {aka AGM7, GRB1, IMD36, p85, p85-ALPHA, p85alpha}, NBN (nibrin) [NCBI Gene 4683] {aka AT-V1, AT-V2, ATV, NBS, NBS1, P95}, KMT2D (lysine methyltransferase 2D) [NCBI Gene 8085] {aka AAD10, ALR, BCAHH, CAGL114, KABUK1, KMS}, MUTYH (mutY DNA glycosylase) [NCBI Gene 4595] {aka MYH}
- **Diseases:** hematuria (MESH:D006417), BCC (MESH:D002280)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11925511/full.md

## References

19 references — full list in the complete paper: https://tomesphere.com/paper/PMC11925511/full.md

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Source: https://tomesphere.com/paper/PMC11925511