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

**Authors:** Mohammed S. Alorjani, Samir Al Bashir, Basmah Al-Zaareer, Sohaib Al-Khatib, Raed M. Al-Zoubi, Bahaa Al-Trad, Manal AbuAlarja, Ayman Alzu’bi, Mohammad Al-Hamad, Khalid Al-Batayneh, Mazhar S. Al-Zoubi

PMC · DOI: 10.1007/s10528-024-10974-4 · Biochemical Genetics · 2024-12-04

## TL;DR

This study found that 17% of Jordanian prostate cancer patients had SPOP gene mutations, mainly in exon 7, with no IDH1 mutations detected.

## Contribution

The study reports the first prevalence of SPOP and IDH1 gene mutations in prostate cancer among the Jordanian population.

## Key findings

- SPOP gene mutations were found in 17% of prostate cancer cases, primarily in exon 7.
- No mutations were detected in exon 6 of the IDH1 gene in the studied population.
- PSA levels were strongly correlated with Gleason score and ISUP grade group, but not with SPOP mutations.

## 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.

## Linked entities

- **Genes:** SPOP (speckle type BTB/POZ protein) [NCBI Gene 8405], IDH1 (isocitrate dehydrogenase (NADP(+)) 1) [NCBI Gene 3417]
- **Diseases:** prostate cancer (MONDO:0005159), gastric cancer (MONDO:0001056), colorectal cancer (MONDO:0005575), acute myeloid leukemia (MONDO:0015667)

## Full-text entities

- **Genes:** SPOP (speckle type BTB/POZ protein) [NCBI Gene 8405] {aka BTBD32, NEDMACE, NEDMIDF, NSDVS1, NSDVS2, TEF2}, IDH1 (isocitrate dehydrogenase (NADP(+)) 1) [NCBI Gene 3417] {aka HEL-216, HEL-S-26, IDCD, IDH, IDP, IDPC}, KLK3 (kallikrein related peptidase 3) [NCBI Gene 354] {aka APS, KLK2A1, PSA, hK3}
- **Diseases:** gastric cancer (MESH:D013274), gliomas (MESH:D005910), colorectal cancer (MESH:D015179), prostate adenocarcinoma (MESH:D000230), cartilaginous tumors (MESH:D009369), PCa (MESH:D011471), acute myeloid leukemia (MESH:D015470)
- **Chemicals:** paraffin (MESH:D010232), formalin (MESH:D005557)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

1 references — full list in the complete paper: https://tomesphere.com/paper/PMC12602551/full.md

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Source: https://tomesphere.com/paper/PMC12602551