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Background 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. Case presentation We report a novel case of bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia (B-ALL), with unusual location of DDX41 mutations. The gene expression profile (GEP) of Ph + B-ALL with bi-alleleic DDX41 mutations showed heterogeneously transitional GEP and altered gene expression levels of genes involved in the process essential for red blood cells and myeloid cell differentiation were noted. Conclusions We report that  DDX41  mutations are unusual but can be an underlying event in Ph + B-ALL and screening  DDX41  mutations can be also informative for patients awaiting for haploidentical stem cell transplantation and choosing the therapy.

A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report