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).