Mastocytosis: diverse presentations and outcomes.
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
J D
JD
Division of Allergy, Asthma, and Immunology, Scripps Clinic, La Jolla, Calif 92037, USA.
Brems
J
J
Pockros
P J
PJ
Saven
A
A
Wagner
R L
RL
Weber
R
R
Metcalfe
D
D
Christiansen
S C
SC
D000328:Adult; D005260:Female; D006801:Humans; D008415:Mastocytosis / Q000145:classification / Q000175:diagnosis / Q000628:therapy; D008875:Middle Aged; D016896:Treatment Outcome