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DDX41 mutations are associated with hematological malignancies, including myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), but in patients with idiopathic cytopenia of undetermined significance (ICUS) It's not cle.
A study investigated the incidence, genetic characteristics, and clinical characteristics of DDX41
mutations in Korean patients with ICUS, MDS, or AM.
mutations in Korean patients with ICUS, MDS, or AM.
DDX41
We performed targeted deep sequencing of 61 genes, including DDX41, in 457 patients with ICUS (n=75), MDS (n=210), or AML (n=172 .
Table 1: Characteristics of patients at diagnos.
Table 1: Characteristics of patients at diagnos.
Figure 1: DDX41 mutation frequency by type of hematological malignanc.
ICUS: idiopathic cytopenia of undetermined significance; MDS: myelodysplastic syndrome; AML: acute myeloid leukemi.
ICUS: idiopathic cytopenia of undetermined significance; MDS: myelodysplastic syndrome; AML: acute myeloid leukemi.
Figure 1: DDX41 DDX41 mutation frequency by type of hematological malignanc.
A causal germline DDX41 mutation was identified in 28 (1%) patients, of whom 27 (94%) had a somatic mutation elsewhere in DDX4
Germline origin of DDX41 mutation was performed in all germline-based testing was confirmed in 11 patien.
Table 2: Comparison of clinical features according to the presence of germline DDX41 mutatio.
Table 2: Comparison of clinical features according to the presence of germline DDX41 mutatio.
DDX41
Figure 2: Distribution of DDX41 mutations and concurrent mutations in other gene.
(A) Distribution of DDX41 mutations detected in the current study and two previous studies (Quesada et .
10 and Sebert et .
11)
The figure shows the difference in positional distribution (N-terminal skew versus C-terminal skew) and mutational effects (variable versus missense dominant) between germline and somatic mutation.
The protein structure of DDX41 is based on the RefSeq accession number of NM_016223 and the UniProtKB entry for Q9UJV9: the 622 amino acid long protein contains the helicase ATP-binding domain (positions 212-396), the helicase C-terminal domain (positions 407- 567) and zinc finger domains (positions 580-597.
Different colors indicate different effects of mutations: light blue, missense mutation; light green, inframe indel; purple, nonsense mutation; brown, splice mutation; red, frameshift mutation; black, start codon los.
Different shapes represent three studies: square, Sebert et a.
11 Diamonds, Quesada et a.
10 laps, current stud.
(B) Simultaneous mutations in other genes identified in DDX41 bone marrow samples—mutated patien.
Types of genetic alterations and diseases are described in the lege.
(A) Distribution of DDX41 mutations detected in the current study and two previous studies (Quesada et .
10 and Sebert et .
11)
The figure shows the difference in positional distribution (N-terminal skew versus C-terminal skew) and mutational effects (variable versus missense dominant) between germline and somatic mutation.
The protein structure of DDX41 is based on the RefSeq accession number of NM_016223 and the UniProtKB entry for Q9UJV9: the 622 amino acid long protein contains the helicase ATP-binding domain (positions 212-396), the helicase C-terminal domain (positions 407- 567) and zinc finger domains (positions 580-597.
Different colors indicate different effects of mutations: light blue, missense mutation; light green, inframe indel; purple, nonsense mutation; brown, splice mutation; red, frameshift mutation; black, start codon los.
Different shapes represent three studies: square, Sebert et a.
11 Diamonds, Quesada et a.
10 laps, current stud.
(B) Simultaneous mutations in other genes identified in DDX41 bone marrow samples—mutated patien.
Types of genetic alterations and diseases are described in the lege.
DDX41 DDX41 Four with germline DDX41
Figure 3: Overall survival in patients with different hematological diseases according to DDX41 mutation statu.
Figure 3: Overall survival in patients with different hematological diseases according to DDX41 mutation statu.
For example, higher incidence and different patterns, ICUS with germline DDX41 mutations may be considered hereditary myeloid neoplas.
Original source:
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