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

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. We report a novel cas...

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Bibliographic Details
Published in:BMC medical genomics 2022-03, Vol.15 (1), p.46-46, Article 46
Main Authors: Shin, Woo Yong, Yoon, Seug Yun, Park, Rojin, Kim, Jung-Ah, Song, Ho Hyun, Bang, Hae In, Won, Jong-Ho, Kim, Jieun
Format: Article
Language:English
Subjects:
Allelomorphism
B cells
B-cell lymphoblastic leukemia
Case Report
Case studies
DDX41 germline mutation
DEAD-box RNA Helicases - genetics
Gene expression
Gene mutations
Genetic aspects
Germ-Line Mutation
Health aspects
Humans
Leukemia, Myeloid, Acute - genetics
Lymphocytic leukemia
Mutation
Myelodysplastic Syndromes - genetics
Patient outcomes
Precursor Cell Lymphoblastic Leukemia-Lymphoma
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Summary: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. 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. 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.
ISSN:1755-8794
1755-8794
DOI:10.1186/s12920-022-01191-2