Mastocytosis
Pathophysiology
Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: analysis of clinicopathologic features and activating c-kit mutations.
Pullarkat VA, Bueso-Ramos C, et al.
Am J Hematol. 2003;73:12-17.
Description: This article describes characteristics and pathology of 7 patients with systemic mastocytosis with associated clonal hematological non–mast cell lineage disease. It also describes the incidence of c-kit mutations in this population.
PubMed citation number: 12701114
Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene.
Yavuz AS, Lipsky PE, Yavuz S, Metcalfe DD, Akin C.
Blood. 2002;100:2:661-665.
Description: This paper describes frequency of the Asp816Val c-kit mutation in peripheral blood T cells, B cells, and monocytes in patients with systemic mastocytosis to conclude that mastocytosis is a disorder of a pluripotential stem cell that gives rise to B cells, monocytes, and mast cells.
PubMed citation number: 12091362
Diagnosis
Diagnosis of mastocytosis: general histopathological aspects, morphological criteria, and immunohistochemical findings.
Horny HP, Valent P.
Leuk Res 2001;25:7:543-551.
Description: This paper reviews the pathologic findings, cell morphology, and immunohistochemical findings in malignant mast cells in making the diagnosis of mast cell disease.
PubMed citation number: 11377679
Diagnostic criteria and classification of mastocytosis: a consensus proposal.
Valent P, Horny HP, Escribano L, et al.
Leuk Res. 2001;25:603-625.
Description: In this article, leaders in the field propose diagnositic criteria and a classification schema for mast cell disorders.
PubMed citation number: 11377686
Treatment
Imatinib for systemic mast-cell disease.
Pardanani A, Elliott M, Reeder T, et al.
Lancet. 2003;362:535-536.
Description: This reports on a prospective study of 12 patients with symptomatic mast-cell disease treated with imatinib mesylate and correlates response to the location of the c-kit mutation.
PubMed citation number: 12932387
Cladribine therapy for systemic mastocytosis.
Kluin-Nelemans HC, Oldhoff JM, Van Doormaal JJ, et al.
Blood. 2003;102:4270-4276.
Description: This is a pilot study of cladribine therapy in treating systemic mastocytosis.
PubMed citation number: 12933573
Review
Systemic mastocytosis.
Akin C, Metcalfe DD.
Annu Rev Med. 2004;55:419-432.
Description: This is an up-to-date comprehensive review of systemic mastocytosis.
PubMed citation number: 14746529
Diagnosis and treatment of systemic mastocytosis: state of the art.
Valent P, Akin C, Sperr WR, et al.
Br J Haematol. 2003;122:695-717.
Description: This review of mastocytosis focuses on the diagnosis and treatment of this complex disorder. PubMed citation number: 12930381
Mastocytosis: current concepts in diagnosis and treatment.
Escribano L, Akin C, Castells M, Orfao A, Metcalfe DD.
Ann Hematol. 2002;81:677-690.
Description: This is a comprehensive review of treatment strategies for mastocytosis.
PubMed citation number: 12483363