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Exploring CISD1 as a multifaceted biomarker in cancer: Implications for diagnosis, prognosis, and immunotherapeutic response

  • 0Department of Interdisciplinary Oncology, School of Medicine, LSU LCMC Cancer Center, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.
Genes & Diseases +

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August 20, 2025

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August 20, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

The study reveals that CISD1 protein is altered in many cancers, impacting patient outcomes and predicting responses to immunotherapy. This suggests CISD1 is a promising biomarker for diagnosing, predicting prognosis, and guiding cancer treatment.

Area Of Science

  • Mitochondrial biology and cancer research.

Background

  • CISD1 (CDGSH iron-sulfur domain-containing protein 1) is an outer mitochondrial membrane protein involved in iron homeostasis and oxidative stress.
  • While CISD1 is a known prognostic biomarker in some cancers, its comprehensive role in tumorigenesis, progression, and immunotherapy response across various cancer types is not well understood.

Purpose Of The Study

  • To conduct the first pan-cancer analysis of CISD1 to evaluate its expression, mutation status, and clinical significance in cancer development, progression, and treatment.
  • To investigate the association of CISD1 with tumor biological characteristics, including stemness, tumor mutation burden, microsatellite instability, and immune infiltration.

Main Methods

  • Utilized multi-omics data from public databases (TCGA, GTEx, THPA, GEPIA2.0, SangerBox, cBioPortal, TIMER2.0, CAMOIP, DAVID, SRPLOT, TISIDB).
  • Performed comprehensive bioinformatic analyses including expression profiling, mutation analysis, Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment.
  • Correlated CISD1 expression with clinical outcomes, tumor stemness, tumor mutation burden, microsatellite instability, and immune markers.

Main Results

  • Found significant alterations in CISD1 expression and mutations across multiple cancer types, correlating with poor patient prognosis.
  • GO and KEGG analyses highlighted CISD1's role in cellular bioenergetics.
  • CISD1 expression was significantly associated with tumor stemness, tumor mutation burden, microsatellite instability, and immune checkpoint proteins.
  • Altered CISD1 levels were observed in patients responding to immunotherapy, indicating its predictive value.

Conclusions

  • CISD1 is a crucial regulator in cancer biology, exhibiting significant alterations across various cancers.
  • CISD1 serves as a reliable diagnostic and prognostic biomarker.
  • CISD1 is a potential predictor of immunotherapy response, offering a target for personalized cancer therapies.

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