DDX41 antibody - C-terminal region (ARP36438_T100)
- Known as:
- DDX41 (anti-) - C-terminal region (ARP36438_T100)
- Catalog number:
- arp36438_t100
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- DDX41 antibody - C-terminal region (ARP36438_T100)
Related genes to: DDX41 antibody - C-terminal region (ARP36438_T100)
- Gene:
- DDX41 NIH gene
- Name:
- DEAD-box helicase 41
- Previous symbol:
- -
- Synonyms:
- ABS, MGC8828
- Chromosome:
- 5q35.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-06-13
- Date modifiied:
- 2019-04-23
Related products to: DDX41 antibody - C-terminal region (ARP36438_T100)
Related articles to: DDX41 antibody - C-terminal region (ARP36438_T100)
- DEAD-box helicase 41 (DDX41)-associated myeloid neoplasms represent a distinct hereditary cancer syndrome and have emerged as the most common form of genetic predisposition to adult-onset hematologic malignancies, accounting for 3-5% of adults with myelodysplastic syndrome and acute myeloid leukemia. DDX41 is a multifunctional DEAD-box RNA helicase that plays essential roles in pre-mRNA splicing, ribosome biogenesis, and innate immune regulation. Pathogenic germline variants predominantly cluster within the N-terminal region, whereas somatic second-hit mutations are concentrated in the C-terminal helicase domain. The characteristic "two-hit" model involves a germline loss-of-function mutation followed by a somatic variant-most commonly p.R525H-leading to malignant transformation. This process occurs through defective small nucleolar RNA processing, impaired ribosome assembly, erythropoietic abnormalities, and R-loop-mediated DNA damage. Clinically, the phenotype is consistent and characterized by late-onset disease in the sixth to seventh decades of life, a strong male predominance, hypocellular bone marrow, and normal cytogenetics. Despite these distinctive features, affected individuals generally exhibit favorable treatment responses and outcomes compared with sporadic cases. An important clinical consideration in DDX41-associated disease management is the planning of allogeneic hematopoietic cell transplantation, where genetic screening for DDX41 variants among potential related donors is essential. Future investigations should aim to elucidate the molecular mechanisms underlying DDX41-driven leukemogenesis, refine surveillance strategies, and develop targeted therapeutic approaches. - Source: PubMed
Publication date: 2026/05/01
Lee Je-HwanHur Eun-HyeCho Young-Uk - Patients with lymphoid malignancies are at increased risk for second primary hematological malignancies (SPHM) due to reduced immune surveillance, genetic predispositions, and previous cancer therapies, including chemotherapy. SPHMs can substantially increase morbidity and mortality. In this study, we aim to characterize the clinical and genomic features, risk factors, and outcomes of patients who developed SPHMs following therapy for hematological malignancies, including multiple myeloma (MM), chronic lymphocytic leukemia (CLL), and lymphoma. We conducted a retrospective analysis of the incidence, clinical features, genomic determinants, and outcomes of SPHMs in patients with MM and compared them with patients who had prior CLL or lymphoma to explore differences in leukemogenesis. We also analyzed pre-SPHM samples to detect clonal myeloid (M-CHIP) and lymphoid (L-CHIP) somatic mutations that may promote SPHM development. Twenty-six patients with MM developed SPHMs, including 14 patients with therapy-related acute lymphoblastic leukemia (t-ALL) and 12 patients with therapy-related acute myeloid leukemia (t-AML). Median overall survival (OS) was markedly shorter for patients with MM and t-AML (0.28 years) than for those with t-ALL (2.54 years). TP53 mutations, complex karyotypes, and other high-risk prognostic features were common. In a comparator cohort of 25 patients with prior CLL or lymphoma who developed t-AML, TP53 alterations and adverse cytogenetics were also frequent, and outcomes were uniformly poor, with median OS under 1 year across cohorts. Pretransplant sequencing identified low-VAF (variant allele frequency) TP53 and DNMT3A clones in several patients that expanded at transformation; 1 patient carried a germline DDX41 loss-of-function variant. In conclusion, our study adds to the growing body of literature characterizing the features and burden of therapy‑related hematological malignancies and highlights the potential value of early detection of pre‑malignant clonal populations. - Source: PubMed
Publication date: 2026/04/24
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Publication date: 2026/04/23
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