[Validation of gradient-boosted models for non-invasive diagnosis of myelodysplastic neoplasms: a single-center...

Bone marrow examination is essential for the definitive diagnosis of myelodysplastic neoplasms (MDS). However, non-invasive diagnostic approaches are needed for patients who cannot tolerate the procedure, especially elderly patients. This study aimed to validate the diagnostic accuracy of non-invasive gradient-boosted models (GBMs) in Japanese patients with MDS. When used alone, GBMs had sensitivity of 63.2% and specificity of 43.9% for diagnosis of MDS. When combined with WT1 mRNA expression levels (WT1 levels)(cutoff: 150 copies/µg RNA), specificity remained similar at 50.0%, while sensitivity improved to 81.6%. MDS was correctly diagnosed in 87.2% of patients with probable or indeterminate MDS by GBMs who had WT1 levels higher than 150 copies/µg RNA. When patients with vitamin B12 deficiency were excluded from analysis, this percentage increased to 91.9%. These findings suggest that the combination of GBMs, WT1 levels, and vitamin B12 deficiency could non-invasively identify patients likely to have MDS.