Whole-Genome Sequencing of Saudi Acute Myeloid Leukaemia (AML) Patients

Abstract

Acute Myeloid Leukaemia (AML) is caused by the accumulation of immature myeloblasts in the bone marrow, leading to failure of normal blood cell production. While the genomic landscape of AML has been well characterised in Western populations, data from the Middle East remain limited. Given differences in age distribution, ethnicity, environmental exposure, and high rates of consanguinity, AML in Saudi Arabia may have distinct genetic features.

This study reports the first Whole Genome Sequencing (WGS) analysis of Saudi AML patients treated at King Faisal Specialist Hospital and Research Centre. Clinical data from 786 adult AML patients were reviewed, and WGS was performed on diagnostic bone marrow samples from 198 patients. Germline and somatic variants, structural variants, copy-number alterations, and extrachromosomal circular DNA were analysed and correlated with clinical outcomes.

Saudi AML patients were younger and showed high rates of consanguinity and familial cancer history. Germline predisposition variants were identified in this cohort, and the somatic mutational spectrum differed significantly from that reported in Caucasian populations, with a higher prevalence of adverse-risk genetic features. These findings highlight important population-specific differences in AML biology and support the need for tailored diagnostic, prognostic, and therapeutic strategies for Middle Eastern patients.