Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Acute mast cell leukemia associated with t(4;5)(q21;q33).

Ren Ching Wang1, David Ward2, Philip Dunn3

  • 1Department of Pathology and Laboratory Medicine, Florida Hospital, Orlando, FL, 32803; Department of Pathology and Laboratory Medicine, Taichung Veteran General Hospital, Taichung, Taiwan, 40705.

Human Pathology
|April 17, 2017
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Assessing the relationships between frailty, sarcopenia and Alzheimer's disease biomarkers: A scoping review.

Ageing research reviews·2026
Same author

Distinct subgroups of follicular dendritic cell sarcoma: insights from clinical, histologic and immunophenotypic characterization.

Virchows Archiv : an international journal of pathology·2026
Same author

Author Correction: Random access and semantic search in DNA data storage enabled by Cas9 and machine-guided design.

Nature communications·2026
Same author

Prevalence of frailty and its association with cognition in preclinical Alzheimer's disease: a cross-sectional analysis of baseline data from the A4 study.

Age and ageing·2026
Same author

Reconciling links between diversity and population stability across global plant communities.

The New phytologist·2026
Same author

Vicarious trauma primes innate immunity and reconfigures human brain networks.

bioRxiv : the preprint server for biology·2026

This study details the first acute mast cell leukemia case with a rare PDGFRB-PRKG2 fusion gene. Effective tyrosine kinase inhibitor treatment led to a long-term complete remission, highlighting a new disease spectrum.

Area of Science:

  • Hematology
  • Oncology
  • Molecular Genetics

Background:

  • Acute mast cell leukemia (AMCL) is a rare and aggressive hematologic malignancy.
  • Translocations involving the Platelet-Derived Growth Factor Receptor Beta (PDGFRB) gene are implicated in certain myeloid neoplasms.
  • Identifying novel gene fusions is crucial for understanding disease pathogenesis and developing targeted therapies.

Observation:

  • This report describes the first case of AMCL with a t(4;5)(q21;q33) translocation.
  • The translocation resulted in a fusion between the PDGFRB gene and the PRKG2 gene, confirmed by fluorescence in situ hybridization.
  • The patient presented with fulminant disease, including AMCL with "C" findings, mast cell sarcoma, and severe basophilia.

Findings:

  • Despite the aggressive presentation, the patient achieved a complete remission lasting over 33 months.
Keywords:
BasophiliaMast cell leukemiaPRKG2/PDGFRB fusion geneSystemic mastocytosisTyrosine kinase inhibitor

Related Experiment Videos

  • The PRKG2/PDGFRB fusion gene defines a distinct clinicopathologic entity within the spectrum of mast cell neoplasms.
  • Tyrosine kinase inhibitor (TKI) therapy demonstrated significant efficacy in this case.

    • Implications:

    • This case expands the known spectrum of diseases associated with the PRKG2/PDGFRB fusion.
    • Early recognition of this specific fusion is critical for guiding effective treatment strategies.
    • The findings underscore the importance of molecular diagnostics in optimizing TKI therapy for mast cell neoplasms.