Marrow mononuclear cell disease

In 1995, Nagata et al. [16] identified a point mutation consisting of a substitution of valine for aspartic acid in the catalytic domain of c-kit (D816V) in the peripheral blood of patients with mastocytosis and predominately myelodysplastic features. Subsequently, the same mutation was identified in adult patients with different forms of mastocytosis in tissues where mast cells are abundant, such as bone marrow, skin and spleen [17]. It is now believed that more than 90% of adults with mastocytosis have the D816V mutation, if bone marrow mononuclear cells are examined [17]. In a subset of patients, primarily those with more severe disease, the clone expands sufficiently to be detected in peripheral blood [16]. 

Bartsch, T., Brehm, M., Zeus, T., Kogler, G., WemeL P., Strauer, B.E. Transplantation of autologous mononuclear bone marrow stem cells in patients with peripheral arterial disease (the tam-pad study). Clinical Research in Cardiology Official Journal of the German Cardiac Society 96, 891-899 (2007)... 

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