Prevalence of SPOP and IDH Gene Mutations in Prostate Cancer in a Jordanian Population

Mohammed S Alorjani1, Samir Al Bashir1, Basmah Al-Zaareer2

  • 1Department of Pathology and Microbiology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.

Biochemical Genetics
|December 4, 2024
PubMed

Insights

Speckle-type POZ (SPOP) gene mutations are prevalent in 17% of Jordanian prostate cancer (PCa) patients, primarily in exon 7. No mutations in the Isocitrate dehydrogenase-1 (IDH1) gene were detected in the study cohort.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Speckle-type POZ (SPOP) is a known tumor suppressor in various cancers, including prostate cancer (PCa).
  • SPOP gene mutations have been identified in primary human PCa.
  • Isocitrate dehydrogenase-1 (IDH1) mutations are rare in PCa, unlike in other cancers like gliomas.

Purpose of the Study:

  • To determine the prevalence of SPOP and IDH1 gene mutations in prostate adenocarcinoma within the Jordanian population.
  • To explore potential correlations between gene mutations and clinicopathological characteristics of PCa.

Main Methods:

  • Genomic DNA extraction from 100 formalin-fixed paraffin-embedded PCa tissue samples.
  • PCR amplification and direct sequencing of SPOP exons 4-7 and IDH1 exon 6.
  • Analysis of mutation status alongside clinicopathological data, including PSA levels, Gleason score (GS), and ISUP grade group (GG).

Main Results:

  • SPOP gene mutations were identified in 17% of the Jordanian PCa cases, predominantly in exon 7.
  • No mutations were detected in the screened exon 6 of the IDH1 gene.
  • A strong correlation was observed between prostate-specific antigen (PSA) levels and both Gleason score (GS) and ISUP grade group (GG).

Conclusions:

  • The study highlights a significant frequency of SPOP gene mutations in Jordanian PCa patients.
  • No IDH1 mutations were found in the studied cohort, suggesting its limited role in this population.
  • Clinicopathological parameters like PSA, GS, and ISUP GG are strongly correlated, reinforcing their importance in PCa assessment.

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