Germline and somatic mutational analysis
To define if the patients described above had germline predisposition to developing myeloid neoplasms and, when possible, define the somatic landscapes of their malignancies, we performed mutational analyses using the Ion Torrent technology and a custom gene panel designed in our laboratory, the Myelo-panel (see Materials and Methods for details).
We performed germline analysis on buccal DNA and, whenever available, somatic analysis on the pathological sample at diagnosis, as previously described. We report all germline variants (VAF>20%) identified in common between the sibling pairs (Table 2) and, for somatic mutations, all pathogenic and likely pathogenic variants plus VUS identified with VAF>5% (Table 3). All germline variants were validated by Sanger sequencing (Supplementary Figure 1).