Biopsy-free score for screening myelodysplastic syndrome and related diseases in cytopenic patients

Information from the abstract

Myelodysplastic syndromes (MDS) often present with cytopenia, requiring bone marrow exams for diagnosis, which can be subjective and challenging. This study aimed to develop a non-invasive tool integrating clinical, laboratory, and genetic data to estimate MDS probability in Asian patients with unexplained cytopenia. Data were collected from three University hospitals in Thailand (2018–2023). Participants were adults with unexplained cytopenia. Next Generation Sequencing targeted a 40-gene myeloid panel. The predictive model was validated using bootstrapping. The study enrolled 285 participants, including 210 diagnosed with MDS (MDS: 144, MDS/MPN: 32, AML-MR: 34) and 75 non-MDS controls. The MDS group exhibited more severe anemia (Hb 8.7 vs. 10.2 g/dL; p < 0.001) and lower neutrophil count (1.8 vs. 1.9 × 109/L; p = 0.02) compared to non-MDS. Higher red cell distribution width (RDW ≥ 15%) and ≥ 2 mutations were more common in MDS (75% vs. 44% and 46% vs. 2.7%; p < 0.001). The most common gene mutations were TET2 (20.0%) , SRSF2 (16.7%) , ASXL1 (15.2%) , RUNX1 (11.9%) , and DNMT3A (10.5%) . A univariate analysis showed that Hb < 10 g/dL, ANC

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Related topics: Acute Myeloid Leukemia Research · Hematological disorders and diagnostics · Blood disorders and treatments