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Updated: Nov 8, 2025
07:45
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
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Histiocytosis
Jean-François Emile1, Fleur Cohen-Aubart2, Matthew Collin3
1EA4340 BECCOH, Université de Versailles SQY, Service de Pathologie, Hôpital Ambroise Paré, AP-HP, Boulogne, France.
Lancet (London, England)
|April 26, 2021
Summary
Histiocytoses are rare myeloid cell disorders affecting any organ, often diagnosed late in adults. Genetic mutations activating the MAP kinase pathway are key, with targeted therapies offering new hope.
Area of Science:
- Hematology
- Oncology
- Rare Diseases
Background:
- Histiocytoses are rare, heterogeneous disorders involving myeloid cell infiltration of various organs.
- These conditions can affect any age group, but diagnosis is often delayed in adults due to varied presentations.
Purpose of the Study:
- To review the diagnostic challenges, underlying molecular mechanisms, and therapeutic advancements in histiocytoses.
- To highlight the importance of molecular profiling for prognosis and treatment selection.
Main Methods:
- Review of clinical, histological, and molecular findings in histiocytosis cases.
- Analysis of treatment outcomes, including response to targeted therapies.
Main Results:
- Somatic mutations in MAP kinase pathway genes are frequently identified in affected tissues and sometimes in blood.
- Targeted BRAF or MEK inhibitors have shown significant success in salvage therapy.
Conclusions:
- Accurate diagnosis requires comprehensive investigations and molecular typing for prognostic assessment.
- While targeted therapies are effective, optimal treatment strategies and prevention of neurological complications require further research.
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