ATM mutations in myelodysplastic neoplasms, acute myeloid leukemia, and myeloproliferative neoplasms: a systematic review.
Lucas Oliveira Laurindo, Marjori Lima Boblitz Parente, Greyce Luri Sasahara et al.
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In 30 seconds
This systematic review evaluated the impact of ATM mutations in myelodysplastic neoplasms (MDS), acute myeloid leukemia (AML), and myeloproliferative neoplasms (MPN). Ten studies were included, revealing that ATM alterations are associated with downregulation and hypermethylation in MDS, and reduced expression in AML correlates with increased blast proliferation and chemoresistance. The findings highlight ATM mutations as significant biomarkers in myeloid malignancies.
Key findings
- In MDS, ATM alterations were consistently downregulated and hypermethylated, particularly in cases progressing to AML.
- Reduced ATM expression in AML was linked to increased blast proliferation, driven by miR-100 or miR-181a.
- The ATM variant rs3092856 was associated with chemoresistance and inferior survival in AML patients.
- ATM polymorphisms may contribute to disease susceptibility and adverse prognostic stratification in MPN.
Why it matters
Understanding the role of ATM mutations in myeloid malignancies can enhance prognostic assessments and inform treatment strategies. Clinicians may consider integrating ATM status into molecular panels to guide precision medicine approaches.