Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
November 11, 2025Journal of Clinical MedicineOpen Access

Clinical and Molecular Spectrum of DDX41 Variants in Korean Patients with Hematologic Malignancies

View Full Paper
Ask AI
Bookmark
Share

Authors

BKBoram KimDCDae Ho ChoiJJJun Ho Jang

Discussion

Loading...

Member takes

Overview

Retrospective analysis reveals DDX41 variant frequency and survival outcomes in Korean patients with hematologic malignancies, implicating DNMT3A co-variants.

Key Points

  • To investigate the frequency and clinical characteristics of DDX41 variants in Korean patients with hematologic malignancies.
  • Retrospective review of 716 patients with hematologic malignancies
  • Targeted next-generation sequencing performed on patients
  • Analysis of variant allele frequency distributions and survival outcomes
  • DDX41 variants identified in 34 out of 716 patients (4.7%)
  • Most common variant was Y259C (20.6%), followed by A500fs (14.7%) and others
  • Somatic DDX41 variants occurred in 63.6% of patients with germline variants, with DNMT3A frequently involved

Cite This Study

Kim et al. (2025) studied this question.

synapsesocial.com/papers/69252e90c0ce034ddc3560d7https://doi.org/10.3390/jcm14227999
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Leveraging paired germline and somatic analysis to improve the classification of <i>DDX41</i> variants2026 · 1 citations
  2. 2How to manage patients with germline <i>DDX41</i> variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms2024 · 14 citations
  3. 3Unsupervised clustering of DDX41 mutants informs on the somatic landscape of single germline hits2025
  4. 4Exploring the spectrum of non-malignant complications in germline DDX41-associated hematologic disorders2025
  5. 5Germline DDX41 mutations in myeloid neoplasms: a comprehensive review2026 · 1 citations