Germline DDX41 mutations are involved in familial myelodysplastic syndromes (MDSs) and
acute myeloid leukemias (AMLs). We analyzed the prevalence and characteristics of DDX41 …

Simple Summary A predisposition to myeloid neoplasms has recently been recognized as a
defined clinical entity by the World Health Organization. One of the most well-known …

The inclusion of familial myeloid malignancies as a separate disease entity in the revised
WHO classification has renewed efforts to improve the recognition and management of this …

Modern management of acute myeloid leukaemia (AML) relies on the integration of
phenotypic and genetic data to assign classification, establish prognosis, enhance …

DDX41 mutations (germline and somatic) are associated with late onset myelodysplastic
syndromes/acute myeloid leukemia (MDS/AML). Myeloid neoplasms (MN) with germline …

Purpose To determine the degree of testing consistency among commercially available
diagnostic assays for hereditary hematopoietic malignancies (HHMs). Methods Next …

Background Widespread application of massively parallel sequencing has resulted in
recognition of clonal hematopoiesis in various clinical settings and on a relatively frequent …

Comparison between GATA2 and DDX41-mutated myeloid neoplasms Comparison between
GATA2 and DDX41-mutated myeloid neoplasms Leuk Res. 2022 Oct:121:106931. doi …

Objectives Familial cases of hematological malignancies are associated with germline
mutations. In particular, heterozygous mutations of SRP72 correlate with the development of …

Background and aim Considering the importance of miR-143 and miR-222 in
carcinogenicity and the importance of miRSNPs in acute myeloid leukemia, this research …