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Monosomal karyotype in acute myeloid leukemia defines a distinct subgroup within the adverse cytogenetic risk
Georgia Voutiadou1, George Papaioannou, Maria Gaitatzi
1Hematology Department and Hematopoietic Cell Transplantation (HCT) Unit, G. Papanicolaou Hospital, Thessaloniki, Greece.
Abstract:
Monosomal karyotype (MK) has recently been reported to identify a distinct subset of acute myeloid leukemia (AML) with adverse prognosis. We retrospectively evaluated the frequency of MK in a large cohort of 549 unselected AML cases diagnosed in our department over a period of 13 years and explored potential associations with clinicobiological features and outcome. MK was found in 62 of 549 cases (11.3%), with all but one assigned to the unfavorable cytogenetic risk category; 57 of these 62 MK cases had a complex karyotype. Comparison with a subgroup of AML cases, who had unfavorable karyotypic profiles yet without MK (non-MK) and who were treated uniformly with similar, "3+7"-based regimens, revealed significant (P < 0.05) associations between MK and advanced age, low white blood cell count at diagnosis, and inferior overall survival (6.5 vs. 15 months for non-MK cases). In conclusion, MK defines a sizeable subset of patients with unfavorable cytogenetics who exhibit a distinct clinical profile, even in direct comparison with other unfavorable karyotypes.
Insights
Monosomal karyotype (MK) is a significant indicator in acute myeloid leukemia (AML), identifying patients with poor prognosis. This study found MK in 11.3% of AML cases, linked to advanced age and worse survival outcomes.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Background:
- Monosomal karyotype (MK) is an emerging marker for adverse prognosis in acute myeloid leukemia (AML).
- Understanding the frequency and clinical impact of MK is crucial for refining AML risk stratification.
Purpose of the Study:
- To determine the frequency of MK in a large, unselected AML cohort.
- To investigate associations between MK, clinicobiological features, and patient outcomes.
Main Methods:
- Retrospective analysis of 549 unselected AML cases diagnosed over 13 years.
- Karyotyping to identify monosomal karyotype (MK).
- Comparison of MK-positive cases with MK-negative unfavorable karyotype cases.
Main Results:
- MK was identified in 11.3% (62/549) of AML cases, predominantly with complex karyotypes.
- MK was significantly associated with advanced age, lower white blood cell count at diagnosis, and inferior overall survival (6.5 vs. 15 months).
- These associations remained significant even when compared to AML cases with unfavorable karyotypes but without MK.
Conclusions:
- Monosomal karyotype (MK) identifies a substantial subset of AML patients with unfavorable cytogenetics.
- MK is associated with a distinct clinical profile and poorer outcomes compared to other unfavorable risk groups.
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