Genomic Profile and Clinical Outcomes in Acute Myeloid Leukemia with Monosomal Karyotype.

The biology of Monosomal Karyotype Acute Myeloid Leukemia (MK AML) remains unclear, and its mutational profile has not been exclusively assessed. We sought to determine the genomic profile of MK AML patients and its correlation with overall survival (OS). We conducted a retrospective study involving 664 AML patients, identifying 156 (23.5%) with MK AML. The most common monosomies were -17 (41%) and -7 (37%), with 149 (95%) and 138 (88%) having myelodysplasia-related () cytogenetics and complex karyotype (), respectively. Frequent mutations included (69%), (19%), (13%), and (7%). Patients with MK AML with mutation () had shorter OS compared to those with wild-type () (median OS, 3.9 versus 9.2 months, = 0.002). Our validation study further supports this finding. There was no significant difference in OS related to the presence or absence of CK ( = 0.252), mutations ( = 0.252), ( = 0.264), ( = 0.264), and ( = 0.183) alterations. Co-mutation with novel EPI6 and TAZI signature alterations did not significantly impact OS among MK AML patients, suggesting that remains the dominant driver of outcome in this subgroup. In conclusion, MK AML is a genotypically diverse and high-risk group, with MK AML indicating worse prognosis.