Expression and Mutational Analysis in Hematological Malignancy in Jeddah, Saudi Arabia.

BACKGROUND

Tumor protein 53 () is a tumor-suppressor gene and plays an essential role in apoptosis, cell cycle arrest, genomic stability, and DNA repair. Although it is the most often mutated gene in human cancer, it has respectively low frequency in hematological malignancy but is significantly linked with complex karyotype, poor prognosis, and chemotherapeutic response. Nevertheless, the prevalence and prognostic role of mutations in hematological malignancy in Saudi patients are not well reported. We, therefore, aim to assess the frequency of mutations in hematological malignancies in Saudi Arabia.

METHOD

20 different hematological malignancy samples were tested using fluorescence in situ hybridization (FISH) technique for deletion detection and next-generation sequencing (NGS) targeted panel was applied on 10 samples for mutations identification specifically mutation.

RESULTS

deletion was detected in 6 of 20 samples by FISH. Most of the 6 patients with deletion had acute lymphoblastic leukemia (ALL), and majority of them were child. NGS result revealed one heterozygous missense mutation in exon 5 of the gene (c. G9963A, p.H175R).

CONCLUSION

To the best of our knowledge, the mutation is novel variant, and the first time we are reporting their association with myelodysplastic syndromic individual with complex karyotype. This study recommends further analysis of genomic mutations on bigger cohorts, utilizing high throughput technologies.