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High-proportion LOY is likely an MDS associated aberration
for NGS assay). The final study set comprised the remain- ing 91 samples from 73 patients.
Age at presentation and extent of loss of chromosome Y
Most (86%) patients were older than 65 years; the medi- an age was 75 years (range, 29-90; mean 73 years) (Online Supplementary Figure S1B). Twenty-three patients had <25% metaphases with LOY, 10 had 25-49%, 8 had 50- 74%, and 32 had ≥75%. Bivariate analysis did not demon-
A
strate any significant correlation between age and percent- age of metaphases involved by LOY (Table 1, Online Supplementary Figure S1C). All identified patients had undergone bone marrow evaluation for either a history of cytopenias or cytosis; 56 patients (77%) had at least one cytopenia at the time of marrow evaluation. There was no association between percentage of metaphases with LOY and affected lineage or severity of peripheral blood cytopenias.
B
Figure 1. Loss of chromosome Y in ≥75% metaphases is associated with morphological features of myeloid neoplasia and progression to myelodysplastic syn- drome. (A) Mosaic graph demonstrating pathological diagnoses in relation to percentage of metaphases involved by loss of chromosome Y (LOY) ; divided into four bins for ease of comparison. ≥75% LOY is significantly associated with myeloid neoplasia; while <25% LOY is associated with no/minimal dysplasia. (B) Failure plot demonstrating presence or absence of evidence of progression in patients with LOY with no dysplasia/minimal dysplasia at presentation. Each dot represents diag- nosis of myelodysplastic syndrome during follow up. The red line represents patients with ≥75% LOY, while the blue line represents patients with <75% LOY.
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