Journal
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
Volume 34, Issue 5, Pages 445-460Publisher
WILEY
DOI: 10.1111/j.1751-553X.2012.01427.x
Keywords
Mastocytosis; mast cells; biology; diagnosis
Categories
Funding
- Fondo de Investigaciones Sanitarias (FIS) of the Instituto de Salud Carlos III, Ministerio de Economia y Competitividad of Spain [PS09/00032, PI11/02399]
- Fundacion Sociosanitaria de Castilla-La Mancha [2007/36, 2010/008, G-2010/C-002]
- Fundacion Espanola de Mastocitosis [FEM 2010]
- Junta de Castilla y Leon [SAN/103/2011]
- Instituto de Salud Carlos III, Ministerio de Economia y Competitividad of Spain (Toledo, Spain) [RETICS RD09/0076/00074]
- Instituto de Salud Carlos III, Ministerio de Economia y Competitividad of Spain [RETICS RD06/0020/0035]
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Mastocytosis comprises a heterogeneous group of disorders characterized by the presence of clonal mast cells (MC) in organs such as skin, bone marrow (BM), and gastrointestinal tract, among other tissues. The clonal nature of the disease can be established in most adult patients by the demonstration of activating KIT mutations in their BM MC. When highly sensitive techniques capable of identifying cells present at very low frequencies in a sample are applied, BM MC from virtually all systemic mastocytosis patients display unique immunophenotypical features, particularly the aberrant expression of CD25. By contrast, large, multifocal BM MC aggregates (the only World Health Organization major criterion for systemic mastocytosis) are absent in a significant proportion of patients fulfilling at least three minor criteria for systemic mastocytosis, particularly in subjects studied at early stages of the disease with very low MC burden. Moreover, recent molecular and immunophenotypical investigations of BM MC from patients with indolent systemic mastocytosis have revealed a close association of some biological features (e.g., multilineage involvement of hematopoiesis by the KIT mutation and an immature mast cell immunophenotype) with an increased risk for disease progression. These observations support the fact that, although the current consensus diagnostic criteria for systemic mastocytosis have been a major advance for the diagnosis and classification of the disease, rationale usage of the most sensitive diagnostic techniques available nowadays is needed to improve the diagnosis, refine the classification, and reach objective prognostic stratification of adult mastocytosis.
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