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Pathogenesis, Diagnosis, Classification, and Management of Systemic Mastocytosis

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Myeloproliferative Neoplasms

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Abstract

Mast cell disease (MCD) or mastocytosis is a heterogenous disorder ­characterized by the abnormal growth and accumulation of morphologically and immunophenotypically abnormal mast cells in one or more organs. The clinical presentation of mastocytosis is diverse, and many patients do not fit the classical description – namely, a variably long history of urticaria pigmentosa (UP), followed by the insidious onset of flushing, cramping abdominal pain, diarrhea, and bone pain [1–3]. Other disease manifestations include osteopenia, hepatosplenomegaly, and abnormalities of blood and bone marrow (BM). Unlike pediatric cases, most adults with UP-like skin lesions have systemic disease (i.e., systemic mastocytosis [SM]) at presentation, a condition generally confirmed by means of a BM biopsy [4]. Diagnosis requires BM examination including immunohistochemical stains for mast cell tryptase or CD117 (KIT receptor). More sensitive techniques to detect clonal mast cells include immunophenotyping for CD25 or mutation screening for the KIT D816V mutation.

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  1. Division of Hematology, Mayo Clinic, Rochester, MN, USA

    Animesh Pardanani & Ayalew Tefferi

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  1. Animesh Pardanani
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Correspondence to Ayalew Tefferi .

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  1. M.D. Anderson Cancer Center, Dept. Leukemia, University of Texas, Holcombe Blvd. 1515, Houston, 77030, Texas, USA

    Srdan Verstovsek

  2. Dept. Internal Medicine, Div. Hematology, Mayo Clinic, First Street SW. 200, Rochester, 55905, Minnesota, USA

    Ayalew Tefferi

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Pardanani, A., Tefferi, A. (2011). Pathogenesis, Diagnosis, Classification, and Management of Systemic Mastocytosis. In: Verstovsek, S., Tefferi, A. (eds) Myeloproliferative Neoplasms. Contemporary Hematology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-266-7_11

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