Genomic sequencing study regarding leukemia samples with DDX41 mutation

We sequenced genomic DNA from bone marrow samples of B-ALL with t(9;22) +/- DDX41 mutation and AML to uncover differences in somatic variations. The germline mutations of DDX41, also known as DEAD box RNA helicase 41, have been found in about 1.5% of myeloid neoplasms (MNs). Development of MDS/AML is relatively common in germline DDX41 mutations. However, a variety of hematological malignancies (HMs) have been reported. A novel case of bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia (B-ALL), with unusual location of DDX41 mutations is included in this data