ASXL1 and acute myeloid leukemia: To date, few patients with MNGP have been reported to present germline ASXL1 mutations [16, 52], however, the strong AML family history found within this family together with the fact that the variant was detected in a remission sample from the proband (B.IV.3), as well as in a diagnosis sample from her paternal uncle (B.III.6), supports the idea of its pathogenicity and germline origin Fig. 2.