Within the general category of mastocytosis lies an array of clinical presentations with differing prognostic implications. We report 3 cases of systemic mastocytosis distinguished by novel aspects of the disease. Case 1 documents the first successful orthotopic liver transplantation in a patient with mastocytosis; case 2 depicts a potential hereditary component of mastocytosis; and case 3 documents the progression of mastocytosis with hematologic abnormality to mast cell leukemia. Future investigations, such as the early definition of c-kit receptor mutations, may provide additional insight as to the molecular basis for this heterogeneous disease and guidance for prognostic implications and targeted therapies.
Pauls JD, Brems J, Pockros PJ, Saven A, Wagner RL, Weber R, Metcalfe D, Christiansen SC. MastocytosisDiverse Presentations and Outcomes. Arch Intern Med. 1999;159(4):401–405. doi:10.1001/archinte.159.4.401