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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.
Abstract:
Speckle-type POZ (SPOP) is described as an essential tumor suppressor factor in gastric cancer, colorectal cancer, and prostate cancer (PCa). SPOP gene mutations were reported in primary human PCa. Isocitrate dehydrogenase-1 (IDH1) oncogene mutations were detected in gliomas, acute myeloid leukemia, some benign and malignant cartilaginous tumors, and only 1% of PCa. This study aimed to investigate the prevalence of mutations of SPOP and IDH1 genes in PCa in the Jordanian population. One hundred formalin-fixed paraffin-embedded tissue samples were collected from patients diagnosed with prostate adenocarcinoma. The obtained specimens were subjected to genomic DNA extraction, PCR amplification, and direct sequencing of exons 4, 5, 6, and 7 of the SPOP gene and exon 6 of the IDH1 gene. SPOP gene mutations were found in 17% of PCa cases, while no mutation was detected in the screened exon 6 of the IDH1 gene. Clinicopathological data demonstrated a strong correlation between prostate-specific antigen (PSA) levels and both Gleason score (GS) and the International Society of Urological Pathology (ISUP) grade group (GG). There was no significant correlation between PSA levels and age (p = 0.816) nor there were significant associations for SPOP mutational status with age (p = 0.659), PSA levels (p = 0.395), GS (p = 0.259), and ISUP GG (p = 0.424) in the tested population. The study found a strong correlation between PSA levels and both GS and ISUP GG. It also identified a high frequency (17%) of SPOP gene mutations in Jordanian Arab PCa patients, mainly in exon 7. No IDH1 mutations were detected in exon 6.
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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