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A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report.
- Source :
-
BMC Medical Genomics . 3/4/2022, Vol. 15 Issue 1, p1-7. 7p. - Publication Year :
- 2022
-
Abstract
- 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17558794
- Volume :
- 15
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- BMC Medical Genomics
- Publication Type :
- Academic Journal
- Accession number :
- 156274416
- Full Text :
- https://doi.org/10.1186/s12920-022-01191-2