Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
September 10, 2025LeukemiaOpen Access

Germline Jak2-R1063H mutation interferes with normal hematopoietic development and increases risk of thrombosis and leukemic transformation

View Full Paper
Ask AI
Bookmark
Share

Authors

VZVeronika ZimolovaMBMonika BurócziováLBLinda Berková

Discussion

Loading...

Member takes

Overview

Observational analysis shows increased thrombosis and leukemic transformation in MPN with Jak2-R1063H mutation.

Key Points

  • Jak2-R1063H mutation contributes to severe myeloproliferative neoplasms and increased thrombosis.
  • The mutation led to marked mortality increases and elevated D-dimer levels in murine models.
  • Bone marrow studies revealed enhanced megakaryopoiesis and inflammatory signaling activation.
  • Presence of Jak2-R1063H variant in patients correlates with higher risk of thrombotic complications.

Cite This Study

Zimolova et al. (2025) studied this question.

synapsesocial.com/papers/68c242e0b210217d647a4ce5https://doi.org/10.1038/s41375-025-02737-w
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. 1Functional characterization of a novel germline JAK2 R989fs mutation2025
  2. 2PO51 | Thrombocythemia associated with a non-canonical JAK2 mutation: a case report2025
  3. 3HiJAKing the Hematopoietic System: A Low-Frequency JAK2V617F Clone Drives Myeloproliferative Neoplasm Pathology2025 · 3 citations
  4. 4The V617F mutation in JAK2 renders myeloid cells more sensitive to IL-6-mediated gp130 signaling2025
  5. 5JAK2 46/1 (GGCC) Haplotype: A Biomarker for Oncogenesis, Risk Stratification, and Drug Resistance in Myeloproliferative Neoplasms2025