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Mastocytosis: an unusual clonal disorder of bone marrow-derived hematopoietic progenitor cells.

Mastocytosis, an unusual disorder of bone marrow-derived, clonally transformed hematopoietic progenitor cells, exhibits a broad spectrum of clinical and morphologic features ranging from a self-limiting benign disorder (ie, juvenile cutaneous mastocytosis) to highly aggressive neoplasms like mast cell leukemia. Principally, mastocytosis should be divided in 2 main subentities: cutaneous mastocytosis and systemic mastocytosis mainly involving the bone marrow. Mastocytosis is a morphologic diagnosis and should not be diagnosed on the basis of clinical findings alone. Pathologists need to be aware of the disease and its mimickers. Application of the defined diagnostic criteria can confirm or exclude mastocytosis in most cases. Use of antibodies against tryptase, CD117 (KIT), and CD25 is recommended in every suspected case. Because most cases of systemic mastocytosis show a very low degree of infiltration of the bone marrow, antitryptase and anti-CD117 are of major importance for screening and quantification of mast cells, in particular to detect even small compact infiltrates as the only major diagnostic criterion for mastocytosis. Expression of CD25 on mast cells is defined as a minor diagnostic criterion and is usually seen only in mastocytosis but not in reactive states of mast cell hyperplasia.

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