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Systemic Mastocytosis Associated with Lymphoproliferative Disorders (SM-AHNMD)

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Abstract

Mastocytosis is an unusual disorder of bone marrow (BM) origin showing a broad array of morphologically and clinically heterogeneous disease categories which have been defined by the WHO in 2001 and updated in 2008 [1]. The spectrum of disease variants ranges from the absolutely benign solitary mastocytoma of the skin to mast cell leukaemia with a rapidly fatal course (Table 15.1). The major diagnostic criterion for mastocytosis is the histological demonstration of at least one compact tissue infiltrate irrespective of the site. The crucial role of the histopathologist for the diagnosis of mastocytosis therefore is clearly evident. Usually, systemic mastocytosis (SM) is diagnosed in the BM by application of immunohistochemical staining and the detection of the activating point mutation KITD816V in the c-KIT-proto-oncogene. The most important immunohistochemical finding is the demonstration of an aberrant phenotype of mast cells, in particular expression of CD25 [2]. This antigen is not expressed by normal or reactive mast cells in cases of (reactive) mast cell hyperplasia. There is increasing evidence of a relatively frequent association of SM with non-mast cell clonal hematological neoplasms. This unique disorder has been termed SM-AHNMD. From a diagnostic perspective, the hematopathologist has to subclassify both the SM and the AHNMD compartment of the neoplasm according to the established WHO criteria [3, 4]. Accordingly, SM is defined by the presence of one major and at least one of the four minor diagnostic criteria or by at least three minor criteria as shown in Table 15.2 [1]. While AHNMD is a myeloid neoplasm in more than 90 % of all the cases, lymphoproliferative diseases (LPD) rarely do occur and then may pose considerable diagnostic problems. A relatively high frequency of monoclonal gammopathies in patients with mastocytosis was recognized as early as in the 1960’s but a close association of both disorders was not suspected at that time [5]. Plasma cell dyscrasias are the most frequently encountered subcategory in SM-AHNMD, but various lymphoproliferative disorders (LPD) have been also described. It is of diagnostic importance to know that the mast cell infiltrates in SM may be accompanied by reactive lymphocytic aggregates that sometimes even obscure SM and then may lead to an erroneous diagnosis of malignant lymphoma. The histological differential diagnosis in bone marrow biopsies (BMB) may be difficult since some types of malignant lymphoma especially lymphocytic lymphomas (chronic lymphocytic leukaemia and lymphoplasmacytic lymphoma) constitutively exhibit a high number of reactive mast cells.

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Correspondence to Hans-Peter Horny M.D. .

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Horny, HP., Sotlar, K., Valent, P. (2012). Systemic Mastocytosis Associated with Lymphoproliferative Disorders (SM-AHNMD). In: Anagnostou, D., Matutes, E. (eds) Bone Marrow Lymphoid Infiltrates. Springer, London. https://doi.org/10.1007/978-1-4471-4174-7_15

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  • DOI: https://doi.org/10.1007/978-1-4471-4174-7_15

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