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Review
. 2020 Mar;188(5):623-640.
doi: 10.1111/bjh.16288. Epub 2020 Jan 27.

The Clinical and Pathological Panoply of Systemic Mastocytosis

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Review

The Clinical and Pathological Panoply of Systemic Mastocytosis

Deepti H Radia et al. Br J Haematol. .

Abstract

Mastocytosis is a rare disease with varied presentation, myriad symptomatology and variable prognosis. Most patients present with cutaneous disease and mediator-related symptomatology with a small subset having systemic disease (systemic mastocytosis, SM). A subset of the latter develops synchronous or metachronous haematologic neoplasms (SM-AHN), most commonly chronic myelomonocytic leukaemia (CMML). Advanced systemic mastocytosis (ASM) is seen in a relatively small number of patients and is usually associated with organ dysfunction, and may present with hepatosplenomegaly, lymphadenopathy and ascites with progression to leukaemic transformation (mast cell leukaemia/acute myeloid leukaemia) occurring in a few patients. This paper discusses the clinical and pathologic features of the entire spectrum of SM in adults.

Keywords: mast cells; myeloproliferative neoplasm; systemic mastocytosis.

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References

    1. Akin, C. (2004) Well-differentiated systemic mastocytosis*1A new disease variant with mature mast cell phenotype and lack of codon 816 c-Kit mutations. Journal of Allergy and Clinical Immunology, 113, S327.
    1. Alvarez-Twose, I., González, P., Morgado, J.M., Jara-Acevedo, M., Sánchez-Muñoz, L., Matito, A., Mollejo, M., Orfao, A. & Escribano, L. (2012) Complete response after imatinib mesylate therapy in a patient with well-differentiated systemic mastocytosis. Journal of Clinical Oncology, 30, e126-e129.
    1. Álvarez-Twose, I., Jara-Acevedo, M., Morgado, J.M., García-Montero, A., Sánchez-Muñoz, L., Teodósio, C., Matito, A., Mayado, A., Caldas, C., Mollejo, M., Orfao, A. & Escribano, L. (2016) Clinical, immunophenotypic, and molecular characteristics of well-differentiated systemic mastocytosis. Journal of Allergy and Clinical Immunology, 137, 168-178.e1.
    1. Alvarez-Twose, I., Matito, A., Morgado, J.M., Sánchez-Muñoz, L., Jara-Acevedo, M., García-Montero, A., Mayado, A., Caldas, C., Teodósio, C., Muñoz-González, J.I., Mollejo, M., Escribano, L. & Orfao, A. (2016) Imatinib in systemic mastocytosis: a phase IV clinical trial in patients lacking exon 17 KIT mutations and review of the literature. Oncotarget, 8, 68950-68963.
    1. Arber, D.A., Orazi, A., Hasserjian, R., Thiele, J., Borowitz, M.J., Le Beau, M.M., Bloomfield, C.D., Cazzola, M. & Vardiman J.W. (2016) The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood, 127, 2391-2405.

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