Among the 15 mosaic subjects who had a hematological diagnosis after DNA sampling, four had myeloid leukemia, six had chronic lymphocytic leukemia, one had multiple myeloma, one had MDS, one had MPD and two had non-Hodgkin lymphoma. Thus, the 15 cases are about evenly divided between mature B-cell neoplasms and myeloid malignancies. Not surprisingly, the leukemias are over-represented among mosaic compared with non-mosaic subjects (p-value=0.005, Supplementary Tables 5 and 6). A variety of chromosomal anomalies were found in the mosaic subjects (Supplementary Table 7). Deletions covering the CDRs described above were found in several of these subjects: 13q- in five CLLs, 4q- in one chronic myelogenous leukemia (CML), 20q- in one multiple myeloma and one AML, and 22q- in one CLL. Five of the 15 mosaic subjects with incident hematological cancer had more than one mosaic anomaly, which is higher than in the remaining subjects within this set of cohort samples (25/134), although not significantly so (p=0.18).
