Morphologic and Immunophenotypic Properties of Neoplastic Cells in a Case of Mast Cell Sarcoma

Mast cell sarcoma is an extremely rare and aggressive type of mast cell disease. Only a few cases have been described so far, and little is known about the biology and phenotype of afflicted cells. We describe morphologic and immunophenotypic properties of neoplastic mast cells in a case of an intracranial mast cell sarcoma. In Wright-Giemsa-stained cytospin preparations, the morphology of dispersed cells appeared to be highly atypical with a considerable percentage of metachromatic blasts and mast cells with bilobed or multilobed nuclei. Combined toluidine blue/immunofluorescence staining revealed expression of CD13, CD45, CD88, CD116, and CD117 (c-KIT) on neoplastic mast cells. As assessed by immunohistochemistry, mast cells were immunoreactive for tryptase and CD68R, In contrast, the CD2 antigen that is expressed in mast cells in patients with indolent systemic mastocytosis was not detectable. Mast cells also failed to display the c-KIT mutation Asp-816-Val, which is typically found in systemic mast cell disorders. Together, neoplastic mast cells in a case of mast cell sarcoma were found to exhibit unique morphologic, phenotypical, and molecular features when compared with mast cells in indolent mastocytosis or normal tissue mast cells.