Onkológia 3/2024

The case of a patient with acute mast cell leukaemia

Mastocytosis is a group of heterogeneous hematopoietic disorders resulting from abnormal clonal proliferation of mast cells and their accumulation in the skin and/or other tissues. In the revised WHO (World Health Organization) classification from 2017, mastocytosis was removed from the subtypes of myeloproliferative neoplasia (MPN) and classified as a separate disease entity with its own specific clinical and biological features. Mast cell leukemia (MCL) is histopathologically defined by the presence of 20% or more neoplastic mast cells in a bone marrow aspirate. It is a very rare form of systemic mastocytosis, which forms only less than 1% of all mastocytosis. In the theoretical part, we describe in detail all subtypes, diagnostic criteria, clinical manifestations and treatment options of mastocytosis. In the practical part, we present a case of our patient, who presents with an extremely rare diagnosis of acute mast cell leukemia.

Keywords: mastocytosis, mast cell leukemia, diagnosis, treatment, allogeneic transplantation, graft-versus-host reaction, thrombotic microangiopathy