# SPEF1 and SPEF2 as potential biomarkers in bladder cancer: Insights from a comprehensive bioinformatic analysis

**Authors:** Mohamed A. A. A. Hegazi, Fabio Pasqualini, Maurizio Chiriva-Internati, Gianluigi Taverna, Fabio Grizzi

PMC · DOI: 10.14440/bladder.2024.0071 · Bladder · 2025-04-11

## TL;DR

This study explores SPEF1 and SPEF2 as potential biomarkers for bladder cancer using bioinformatics tools, suggesting their roles in cancer progression and prognosis.

## Contribution

The study identifies SPEF1 and SPEF2 as novel potential biomarkers for bladder cancer through comprehensive bioinformatic analysis.

## Key findings

- SPEF1 is significantly upregulated in bladder cancer tissues compared to normal tissues.
- Higher SPEF2 expression correlates with longer overall survival and immunotherapeutic targets.
- SPEF1 and SPEF2 are involved in biological processes driving bladder cancer progression and tumor microenvironment changes.

## Abstract

Bladder cancer (BLCA) remains a prevalent and complex malignancy characterized by significant heterogeneity. Treatment strategies are diverse, based on patient characteristics and cancer stage. Early identification of biomarkers is crucial for improving diagnosis, staging, and treatment planning. These biomarkers offer valuable insights into lesion features, tumor differentiation, and disease progression, thereby playing a pivotal role in the personalized management of BLCA.

This study investigated the expression of cancer-testis antigens SPEF1 and SPEF2 in BLCA using comprehensive bioinformatic analyses to assess their potential as biomarkers.

The UALCAN database, based on The Cancer Genome Atlas datasets, was employed to compare SPEF1 and SPEF2 expression levels in normal bladder tissues and BLCA samples. In addition, the Kaplan–Meier Plotter, OncoDB, and TIMER 2.0 platforms were utilized to evaluate the prognostic and immunotherapeutic relevance of these antigens.

The findings suggest that SPEF1 and SPEF2 are integral to various biological processes driving BLCA onset and progression. Both genes appear to facilitate BLCA cell progression and migration, contributing to poor prognosis through specific pathways and by altering tumor microenvironment. Notably, SPEF1 expression was significantly upregulated in BLCA tissues compared to normal tissues. Conversely, higher SPEF2 expression was associated with longer overall survival and positively correlated with immunotherapeutic targets.

Although these results were derived from in silico analyses, they offer insights into the potential roles of SPEF1 and SPEF2 as biomarkers. Further studies are warranted to validate these biomarkers in retrospective patient cohorts to establish their clinical utility.

## Linked entities

- **Genes:** SPEF1 (sperm flagellar and cilia associated 1) [NCBI Gene 25876], SPEF2 (sperm flagellar and cilia associated 2) [NCBI Gene 79925]
- **Diseases:** bladder cancer (MONDO:0004986), BLCA (MONDO:0005611)

## Full-text entities

- **Genes:** SPEF2 (sperm flagellar and cilia associated 2) [NCBI Gene 79925] {aka CT122, KPL2, SPGF43}, SPEF1 (sperm flagellar and cilia associated 1) [NCBI Gene 25876] {aka C20orf28, CLAMP, SPEF1A}
- **Diseases:** BLCA (MESH:D001749), Cancer (MESH:D009369)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

8 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12308120/full.md

## References

35 references — full list in the complete paper: https://tomesphere.com/paper/PMC12308120/full.md

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Source: https://tomesphere.com/paper/PMC12308120