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Mastocytosis
Published in Dongyou Liu, Tumors and Cancers, 2017
Previously grouped among myeloproliferative neoplasms (MPN), mastocytosis represents a pathomorphologically and clinically heterogeneous spectrum of localized or systemic disorders characterized by the accumulation of neoplastic mast cells in the bone marrow and other organs/tissues. Mastocytosis consists of several variants, including cutaneous mastocytosis (CM), systemic mastocytosis (SM) (indolent systemic mastocytosis [ISM], smoldering systemic mastocytosis [SSM], systemic mastocytosis with an associated hematological neoplasm [SM-AHN], aggressive systemic mastocytosis [ASM], and mast cell leukemia [MCL]), mast cell sarcoma (MCS), and extracutaneous mastocytoma (Table 14.1) [1,2].
Other Myeloproliferative Neoplasms
Published in Wojciech Gorczyca, Atlas of Differential Diagnosis in Neoplastic Hematopathology, 2014
Mastocytosis is a heterogeneous group of BM-derived disorders characterized by proliferation of the clonally transformed mast cells, often associated with somatic activating point mutations within KIT, and a broad spectrum of clinical and morphologic features ranging from a self-limiting benign disorder (i.e., juvenile cutaneous mastocytosis or urticaria pigmentosa) to highly aggressive neoplasms such as mast cell leukemia [1,22–33]. The symptoms observed in mastocytosis are related to the spontaneous or triggered release of mast cell mediators or due to consequences of pathological accumulation of mast cells in tissues. Basically, mastocytosis can be divided into two main subtypes: cutaneous mastocytosis and SM mainly involving the BM. The WHO has specified criteria for classification of mastocytosis (SM) into seven major subtypes (Table 31.2): cutaneous mastocytosis, indolent SM, SM with an associated clonal hematological nonmast cell disorder, aggressive SM, mast cell leukemia, mast cell sarcoma, and extracutaneous mastocytoma [1,24,29,30,34]. Cutaneous mastocytosis can be divided into four different clinical variants: urticaria pigmentosa, solitary mastocytoma, diffuse cutaneous mastocytosis, and telangiectasia macularis eruptiva perstans [35].
Contemporary Diagnosis and Management of Systemic Mastocytosis
Published in Richard T. Silver, Ayalew Tefferi, Myeloproliferative Disorders, 2007
Peter Valent, Cem Akin, Hans-Peter Horny, Dean D. Metcalfe
Mast cell sarcoma (MCS) is an extremely rare form of mastocytosis. To date, the authors are aware of only three well-documented cases (92–94). The disease is defined by a local destructive sarcoma-like growth of a tumor consisting of highly atypical MC. At initial diagnosis, no systemic involvement is found. However, secondary generalization with involvement of visceral organs and hematopoietic tissues has been described. The terminal phase may be indistinguishable from ASM or MCL (92–94). The prognosis in MCS is grave.
Pharmacotherapy in Mast Cell Leukemia
Published in Expert Opinion on Pharmacotherapy, 2020
Mariarita Laforgia, Concetta Calabrò, Anna Scattone, Carmelo Laface, Mariangela Porcelli, Cosmo Damiano Gadaleta, Patrizia Nardulli, Girolamo Ranieri
As a rare disease, mast cell leukemia (MCL) hits less than 1% of the systemic mastocytosis (SM) patients [1]. SM is a class of different forms of hematologic disease that WHO detailed and classified in 2008 for the first time and then revised in 2016 in: Indolent SM (ISM),Smoldering Systemic Mastocytosis (SSM);SM with associated clonal hematologic non-mast cell lineage disease (SM-AHN);Aggressive SM (ASM)Mast cell sarcoma (MCS)Mast cell leukemia (MCL)
Recent advances in our understanding of mast cell activation – or should it be mast cell mediator disorders?
Published in Expert Review of Clinical Immunology, 2019
Theoharis C. Theoharides, Irene Tsilioni, Huali Ren
Unfortunately, there are many confusing aspects both in the naming and diagnosis of such disorders. First, the term ‘activation’ is typically reserved for activation of receptors or enzymes while ‘stimulation’ is used for cells. Second, stimulation of mast cells may imply proliferation without secretion of all or even any mast cell mediators as in the case of mast cell sarcoma. Next, the term ‘secretion’ is usually reserved for mediators stored inside secretory granules, while the term ‘release’ is used for both pre-stored and newly synthesized mediators. Be it as it may, release of mast cell mediators can occur in many physiologic and pathologic settings. To make matters worse, there are a number of other diseases that mimic and/or are comorbid with diseases involving mast cells (Table 2). As a result, affected patients often go for 10–20 years and as many physicians of different specialties before a diagnosis is made, by which time they have been prescribed numerous medications, often with severe drug interactions that further complicate their presentation and course of their disease.
Drug delivery targets and strategies to address mast cell diseases
Published in Expert Opinion on Drug Delivery, 2023
Clayton H. Rische, Ariel H. Thames, Rebecca A. Krier-Burris, Jeremy A. O’Sullivan, Bruce S. Bochner, Evan A. Scott
Given their contributions to disease, mast cells are logical therapeutic targets for a wide range of pathologies including cancer. For example, mast cells can become malignant in a disease known as systemic mastocytosis [2]. This is caused by aberrations in the KIT gene, resulting in gain-of-function mutations that allow for their clonal proliferation independent of stimulation with the KIT receptor ligand, stem cell factor (SCF). By far the most common version of the mutation occurs in exon 17 of the gene and is known as D816V. Mastocytosis has been classified in several forms, some of which are life-threatening, while isolated mastocytomas tend to be self-limited [3]. Additionally, a role for mast cells in non-mast cell solid tumors also seems likely, so targeting mast cells may influence other types of cancer [4,5]. These classifications, in order of relative severity, are cutaneous mastocytosis, indolent systemic mastocytosis, systemic smoldering mastocytosis, aggressive systemic mastocytosis, mast cell leukemia, and mast cell sarcoma [3,6]. Another classification, known as systemic mastocytosis with associated hematologic neoplasm, is as severe and aggressive as other advanced forms of the disease, but displays a wider range in severity due to the variable nature of the associated neoplasms [7]. Mutations in the KIT gene are the most reliable characteristics of malignant mast cells, however histological studies of cell morphology and growth combined with detection of aberrantly expressed surface markers such as CD25, and perhaps to a lesser extent CD2, are part of the criteria needed to define mastocytosis [8,9]. As a result, bone marrow biopsies are commonly needed, but the invasiveness of this analysis requires reasonable evidence that mastocytosis is present. Despite this knowledge of mast cell function, identification markers, and roles in a wide range of immunopathology, few therapies that directly target these cells have been successfully developed [10].