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Background <p>Mutations in <i>NKG2D</i> gene increase the risk of cancer, including chronic myeloid leukemia (CML). The Mutational landscape of exon 8 of <i>NKG2D</i> gene remains poorly characterized, especially in CML.</p> Purpose <p>Exploring the mutations in exon 8 of <i>NKG2D</i> gene of CML patients, examine its interactions with other genes, and evaluate associated biochemical, hematological and clinical-pathological parameters.</p> Methodology <p>Blood samples from CML patients and healthy controls were collected for molecular, biochemical and hematological assessments. Mutations in exon 8 of NKG<i>2D</i> gene were detected using Sanger sequencing. <i>NKG2D</i> gene interactions were predicted via GeneMANIA database.</p> Results <p>in exon 8 of the <i>NKG2D</i> gene, mutations (substitution and deletion) were detected in 88% of CML patients, with 50% carrying multiple variants. Nine single nucleotide polymorphisms (SNPs) were identified, including eight substitutions and one deletion. The most frequent substitution was G &gt; GC and six variants were novel. Homozygous 414G &gt; C had the highest mutation score. GeneMANIA analysis revealed strong interactions between <i>NKG2D</i> and 20 other genes, notably <i>HCST</i> gene, with co-expression and pathway interactions involving thirteen and eleven genes, respectively. LDH levels were significantly higher in patients, while uric acid levels showed no significant difference. CML patients also had higher MID% and lower RBC count, hemoglobin and hematocrit levels. In addition, there were no statistically significant correlations between mutation burden and biochemical/hematological parameters.</p> Conclusion <p><i>NKG2D</i> exon 8 mutations are highly prevalent among CML patients, with multiple or novel variants identified. A strong interaction profile of <i>NKG2D</i> with immune-related genes, indicating possible roles in leukemogenesis.</p>

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Novel and recurrent mutations in exon 8 of natural killer group 2D (NKG2D) gene among chronic myeloid leukemia patients and their potential role in pathogenesis

  • 期刊论文

  • 发表日期：

    2025年9月22日

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  • Aya Abdulrahman Bahjat,
  • Khder Hussein Rasul

摘要

Background

Mutations in NKG2D gene increase the risk of cancer, including chronic myeloid leukemia (CML). The Mutational landscape of exon 8 of NKG2D gene remains poorly characterized, especially in CML.

Purpose

Exploring the mutations in exon 8 of NKG2D gene of CML patients, examine its interactions with other genes, and evaluate associated biochemical, hematological and clinical-pathological parameters.

Methodology

Blood samples from CML patients and healthy controls were collected for molecular, biochemical and hematological assessments. Mutations in exon 8 of NKG2D gene were detected using Sanger sequencing. NKG2D gene interactions were predicted via GeneMANIA database.

Results

in exon 8 of the NKG2D gene, mutations (substitution and deletion) were detected in 88% of CML patients, with 50% carrying multiple variants. Nine single nucleotide polymorphisms (SNPs) were identified, including eight substitutions and one deletion. The most frequent substitution was G > GC and six variants were novel. Homozygous 414G > C had the highest mutation score. GeneMANIA analysis revealed strong interactions between NKG2D and 20 other genes, notably HCST gene, with co-expression and pathway interactions involving thirteen and eleven genes, respectively. LDH levels were significantly higher in patients, while uric acid levels showed no significant difference. CML patients also had higher MID% and lower RBC count, hemoglobin and hematocrit levels. In addition, there were no statistically significant correlations between mutation burden and biochemical/hematological parameters.

Conclusion

NKG2D exon 8 mutations are highly prevalent among CML patients, with multiple or novel variants identified. A strong interaction profile of NKG2D with immune-related genes, indicating possible roles in leukemogenesis.