Pathogenesis

Pullarkat VA, Bueso-Ramos C, Lai R, Kroft S, Wilson CS, Pullarkat ST, Bu X, Thein M, Lee M, Brynes RK.

Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: analysis of clinicopathologic features and activating c-kit mutations.
Am J Hematol 73:1 May, 2003: 12-17.
Description: This article describes characteristics and pathology of seven 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.

Yavuz AS, Lipsky PE, Yavuz S, Metcalfe DD, Akin

C

Evidence for the involvement of a hematopoietic progenitor cell in systemic
mastocytosis from single-cell analysis of mutations in the c-kit gene.
Blood 100:2 Jul 15, 2002: 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.

Diagnosis

Horny HP, Valent P.

Diagnosis of mastocytosis: general histopathological aspects, morphological
criteria, and immunohistochemical findings.
Leuk Res 25:7 Jul, 2001: 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.

Valent P, Horny HP, Escribano L, Longley BJ, Li CY, Schwartz LB, Marone G,

Nunez R, Akin C, Sotlar K, Sperr WR, Wolff K, Brunning RD, Parwaresch RM,
Austen KF, Lennert K, Metcalfe DD, Vardiman JW, Bennett JM.
Diagnostic criteria and classification of mastocytosis: a consensus proposal.
Leuk Res 25:7 Jul, 2001: 603-625.
Description: In this article, leaders in the field propose diagnositic criteria and a classification schema for mast cell disorders.

Treatment

Pardanani A, Elliott M, Reeder T, Li CY, Baxter EJ, Cross NC, Tefferi A.

Imatinib for systemic mast-cell disease.
Lancet 362:9383 Aug 16, 2003: 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.

Kluin-Nelemans HC, Oldhoff JM, Van Doormaal JJ, Van 't Wout JW, Verhoef G, Gerrits WB, van Dobbenburgh OA, Pasmans SG, Fijnheer R.

Cladribine therapy for systemic mastocytosis.
Blood 102:13 Dec 15, 2003: 4270-4276.
Description: This is a pilot study of cladribine therapy in treating systemic mastocytosis.

Review

Akin C, Metcalfe DD.

Systemic mastocytosis.
Annu Rev Med 55, 2004: 419-432.
Description: This is an up-to-date comprehensive review of systemic mastocytosis

.

Valent P, Akin C, Sperr WR, Horny HP, Arock M, Lechner K, Bennett JM, Metcalfe DD.

Diagnosis and treatment of systemic mastocytosis: state of the art.
Br J Haematol 122:5 Sep, 2003: 695-717.
Description: This review of mastocytosis focuses on the diagnosis and treatment of this complex disorder.

Escribano L, Akin C, Castells M, Orfao A, Metcalfe DD.

Mastocytosis: current concepts in diagnosis and treatment.
Ann Hematol 81:12 Dec, 2002: 677-690.
Description: This is a comprehensive review of treatment strategies for mastocytosis.

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