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Clinical Observation
February 22, 1999

MastocytosisDiverse Presentations and Outcomes

Author Affiliations

From the Divisions of Allergy, Asthma, and Immunology (Drs Pauls and Christiansen), Organ Transplantation (Dr Brems), Gastroenterology (Dr Pockros), Hematology/Oncology (Drs Saven and Weber), and Anesthesiology (Dr Wagner), Scripps Clinic, La Jolla, Calif; and the Laboratory of Allergic Disease, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md (Dr Metcalfe).

Arch Intern Med. 1999;159(4):401-405. doi:10.1001/archinte.159.4.401

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.