Hematology · 3 h ago
Rapid AML molecular screening identifies favourable risk but requires broader testing
A prospective study of 211 adults with newly diagnosed de novo AML across 15 Spanish hospitals evaluated centralized rapid molecular screening. High-priority mutation results were available in a mean 3–4 days, but broader testing reclassified 74% of initially intermediate-risk patients as adverse-risk.
- Prospective evaluation included 211 adults across 15 Spanish hospitals.
- Priority mutation testing averaged 3–4 days; fusion testing averaged seven.
- Rapid screening accurately identified 98% of favourable-risk cases.
- Broader testing reclassified 74% of initially intermediate-risk patients as adverse-risk.
A Spanish CETLAM cooperative group study prospectively enrolled 211 consecutive adults with de novo acute myeloid leukaemia (AML) to evaluate the first year of a centralized rapid molecular screening platform serving 15 hospitals. The 2022 European LeukemiaNet (ELN) guidelines recommend results for key molecular markers within 3–5 days, whereas next-generation sequencing (NGS) often takes up to 15 days in practice. The platform used PCR and capillary electrophoresis to test priority mutations and 10 gene fusions, with results compared against local NGS and cytogenetics.
Mean analytical turnaround time was 3–4 days for high-priority mutations and 7 days for gene fusions. Initial rapid screening accurately identified 98% of favourable-risk cases. However, integrating NGS and cytogenetic results reclassified 74% of patients initially assigned intermediate risk as adverse risk.
These findings support centralized rapid testing as an early component of AML risk assessment, rather than a replacement for comprehensive molecular and cytogenetic evaluation. The substantial reclassification rate highlights the provisional nature of initial intermediate-risk assignments. The available abstract does not report effects on treatment selection or patient outcomes, and analytical turnaround times do not establish the total time from sample collection to clinical reporting.
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British Journal of Haematology: Rapid molecular screening of adult AML : Experience from the Spanish CETLAM cooperative group ↗This is an automated AI-condensed summary that has not yet been reviewed by an editor. Always consult the full item at the original source.