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

Aleukemic mast cell leukemia with abnormal immunophenotype and c-kit mutation D816V.

Frank Noack1, Karl Sotlar, Martin Notter

  • 1Department of Pathology, University of Luebeck, Luebeck, Germany. noack@patho.mu-luebeck.de

Leukemia & Lymphoma
|October 30, 2004
PubMed
Summary

This study details a rare case of aleukemic mast cell leukemia (MCL) in a 75-year-old male, characterized by a c-kit D816V mutation and abnormal mast cell immunophenotype without peripheral blood involvement.

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

Mast Cell Activation Syndrome: Quantification of Mast Cells Across Conditions Reveals Limited Diagnostic Utility of Mast Cell Counts and Tryptase Depletion Index.

Archives of pathology & laboratory medicine·2026
Same author

Leukocytosis, Monocytosis, and Eosinophilia in Systemic Mastocytosis: Analysis of Phenotype, Genetics and Prognosis in 596 Patients From the GREM Registry.

The journal of allergy and clinical immunology. In practice·2025
Same author

Tissue-Resident Myeloid and Histiocytic Cells in Health and Disease: Novel Emerging Concepts.

American journal of hematology·2025
Same author

The number of vertebral fractures in indolent systemic mastocytosis is influenced by presence of the KIT-mutation.

Bone·2025
Same author

Lipid-lowering therapy (LLT) in 1,100 cardiac rehabilitation patients with coronary heart disease: the LLT-R(ehabilitation) registry.

Frontiers in cardiovascular medicine·2025
Same author

Harmonization of Diagnostic Criteria in Mastocytosis for Use in Clinical Practice: WHO vs ICC vs AIM/ECNM.

The journal of allergy and clinical immunology. In practice·2024

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Mastocytosis is a group of disorders involving mast cell proliferation.
  • Mast cell leukemia (MCL) is a rare, aggressive subtype.
  • Aleukemic MCL lacks circulating mast cells in peripheral blood.

Observation:

  • A 75-year-old male presented with weight loss and lymphadenopathy.
  • Bone marrow exhibited over 80% atypical mast cell infiltration.
  • No skin lesions or peripheral blood mast cells were detected.

Findings:

  • Neoplastic mast cells showed abnormal immunophenotype (tryptase, chymase, CD2, CD25, CD68, KIT).
  • Confirmed the presence of the c-kit D816V mutation.
  • Diagnosis of aleukemic MCL established per WHO classification.

Related Experiment Videos

Implications:

  • The c-kit D816V mutation links MCL pathogenesis to indolent mast cell disorders.
  • Suggests additional genetic factors contribute to MCL's variable clinical course.
  • Highlights the importance of bone marrow analysis for diagnosing aleukemic MCL.