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Immunology and Allergy Clinics of North... Aug 2018Understanding experiences, perceptions, and perspectives of patients with a mast cell disorder (MCD), including cutaneous mastocytosis, systemic mastocytosis, mast cell... (Review)
Review
Understanding experiences, perceptions, and perspectives of patients with a mast cell disorder (MCD), including cutaneous mastocytosis, systemic mastocytosis, mast cell activation syndromes, and hereditary α-tryptasemia, is an important aspect of successful care, treatment, and informed development of novel therapies. This article reviews existing studies and presents new data on MCD patient perceptions regarding medical care, symptoms, allergies/sensitivities, triggers, future health/disease progression, treatment, impact on daily living, quality of life, support needs, and concerns regarding possible familial disease. Discussion includes aspects affecting the MCD community that require further consideration and development.
Topics: Emotions; Government Regulation; Humans; Mast Cells; Mastocytosis; Patient Preference; Patient Reported Outcome Measures; Perception; Physician-Patient Relations; Quality of Life; United States; United States Food and Drug Administration
PubMed: 30007467
DOI: 10.1016/j.iac.2018.04.006 -
Haematologica Jan 2020
Topics: Humans; Interleukin-6; Mast Cells; Mastocytosis; Mastocytosis, Systemic; Oncogenes
PubMed: 31894094
DOI: 10.3324/haematol.2019.234864 -
Hematology. American Society of... Dec 2022The historically poor prognosis of patients with advanced systemic mastocytosis (AdvSM) and primary eosinophilic neoplasms has shifted to increasingly favorable outcomes... (Review)
Review
The historically poor prognosis of patients with advanced systemic mastocytosis (AdvSM) and primary eosinophilic neoplasms has shifted to increasingly favorable outcomes with the discovery of druggable targets. The multikinase/KIT inhibitor midostaurin and the highly selective KIT D816V inhibitor avapritinib can elicit marked improvements in measures of mast cell (MC) burden as well as reversion of MC-mediated organ damage (C-findings) and disease symptoms. With avapritinib, the achievement of molecular remission of KIT D816V and improved survival compared with historical therapy suggests a potential to affect disease natural history. BLU-263 and bezuclastinib are KIT D816V inhibitors currently being tested in trials of AdvSM. In the new World Health Organization and International Consensus Classifications, the category of "myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase (TK) gene fusions" is inclusive of rearrangements involving PDGFRA, PDGFRB, FGFR1, JAK2, FLT3, and ETV6::ABL1. While the successful outcomes with imatinib in FIP1L1::PDGFRA-positive cases and PDGFRB-rearranged neoplasms have become the "poster children" of these disorders, the responses of the other TK-driven neoplasms to small-molecule inhibitors are more variable. The selective FGFR inhibitor pemigatinib, approved in August 2022, is a promising therapy in aggressive FGFR1-driven diseases and highlights the role of such agents in bridging patients to allogeneic transplantation. This review summarizes the data for these approved and investigational agents and discusses open questions and future priorities regarding the management of these rare diseases.
Topics: Child; Humans; Mastocytosis, Systemic; Protein Kinase Inhibitors; Myeloproliferative Disorders; Imatinib Mesylate; Eosinophilia; Proto-Oncogene Proteins c-kit; Mastocytosis
PubMed: 36485158
DOI: 10.1182/hematology.2022000368 -
Danish Medical Journal Mar 2012The mast cell lives a hidden life, but it is implicated in several physiological reactions. Its ability to react to different stimuli impacts a variety of conditions... (Review)
Review
INTRODUCTION
The mast cell lives a hidden life, but it is implicated in several physiological reactions. Its ability to react to different stimuli impacts a variety of conditions such as asthma, atopic dermatitis, urticaria and anaphylaxis. It is not until recent decades that the evolution of the cell has been described and its fascinating biology has only recently been depicted. We here give a review of systemic mastocytosis in regards to cell biology, diagnostic approaches and clinical practice.
METHODS
A search was made in PubMed in August 2011 entering the keywords: mastocytosis, (systemic, cutaneous, aggressive), mast cell leukaemia, mast cell sarcoma, chromosome, mutation, haematology and treatment.
RESULTS
Mastocytosis is characterized by an abnormal proliferation of mast cells, which accumulate in one or several organ systems, primarily the skin and bone marrow. The disease is clinically heterogeneous and varies from a relatively benign condition with isolated cutaneous lesions to a very aggressive systemic condition with a grave prognosis. The condition affects men and women equally. Children are especially affected by the cutaneous form. In most children, the condition will improve or remit spontaneously before adulthood. Mastocytosis in adults, however, is more often systemic and tends to persist.
CONCLUSION
Patients with mastocytosis represent a heterogeneous group in terms of clinical presentation, management and prognosis. Furthermore, a range of medical specialties serve as the primary entrance to health services, which can be a challenge in respect of achieving uniform management. In order to improve diagnostics and management of systemic mastocytosis, the European Competence Network on Mastocytosis has been established. Patients under suspicion of systemic mastocytosis should be conferred with or referred to a haematological and a dermatological/allergological department.
Topics: Glucocorticoids; Histamine Antagonists; Humans; Mast Cells; Mastocytosis, Systemic; Prognosis
PubMed: 22381091
DOI: No ID Found -
British Journal of Haematology Jan 2018Rapid advances in the understanding of the molecular biology, data from translational and clinical trials, and retrospective analyses has influenced the diagnosis and... (Review)
Review
Rapid advances in the understanding of the molecular biology, data from translational and clinical trials, and retrospective analyses has influenced the diagnosis and treatment of systemic mastocytosis (SM). Many options have existed for the symptomatic management of SM patients, but recent evolution in regards to the molecular underpinnings of this disease and our ability to distinguish clonal mastocytosis from mast cell activation syndrome has changed our treatment paradigm and opened new opportunities for understanding genetic risk, transformation to mast cell leukaemia, and treatment choices. Key to this change has been the discovery of the KIT mutation and the use of next generation sequencing to evaluate for co-existing molecular mutations that may define the disease course. Careful diagnosis, judicious symptom management and close surveillance of those who may have yet undiagnosed disease is paramount in providing optimal management. In this article, we review the diagnosis and provide a paradigm for the management of SM patients.
Topics: Adult; Combined Modality Therapy; Diagnosis, Differential; Disease Progression; Genetic Predisposition to Disease; Hematopoietic Stem Cell Transplantation; Humans; Mastocytosis, Systemic; Mutation; Prognosis
PubMed: 29048112
DOI: 10.1111/bjh.14967 -
International Journal of Molecular... Jun 2023Mastocytosis is a heterogeneous group of diseases associated with excessive proliferation and accumulation of mast cells in different organs. Recent studies have... (Review)
Review
Mastocytosis is a heterogeneous group of diseases associated with excessive proliferation and accumulation of mast cells in different organs. Recent studies have demonstrated that patients suffering from mastocytosis face an increased risk of melanoma and non-melanoma skin cancer. The cause of this has not yet been clearly identified. In the literature, the potential influence of several factors has been suggested, including genetic background, the role of cytokines produced by mast cells, iatrogenic and hormonal factors. The article summarizes the current state of knowledge regarding the epidemiology, pathogenesis, diagnosis, and management of skin neoplasia in mastocytosis patients.
Topics: Humans; Mastocytosis; Mast Cells; Skin Neoplasms; Cytokines; Melanoma; Skin
PubMed: 37372988
DOI: 10.3390/ijms24129840 -
Actas Dermo-sifiliograficas Jul 2021
Topics: Humans; Mast Cells; Mastocytosis, Cutaneous
PubMed: 33901482
DOI: 10.1016/j.ad.2021.01.004 -
International Journal of Molecular... Jun 2019Mastocytosis is a hematopoietic neoplasm defined by abnormal expansion and focal accumulation of clonal tissue mast cells in various organ-systems. The disease exhibits... (Review)
Review
Mastocytosis is a hematopoietic neoplasm defined by abnormal expansion and focal accumulation of clonal tissue mast cells in various organ-systems. The disease exhibits a complex pathology and an equally complex clinical behavior. The classification of the World Health Organization (WHO) divides mastocytosis into cutaneous forms, systemic variants, and localized mast cell tumors. In >80% of patients with systemic mastocytosis (SM), a somatic point mutation in at codon 816 is found. Whereas patients with indolent forms of the disease have a normal or near-normal life expectancy, patients with advanced mast cell neoplasms, including aggressive SM and mast cell leukemia, have a poor prognosis with short survival times. In a majority of these patients, multiple somatic mutations and/or an associated hematologic neoplasm, such as a myeloid leukemia, may be detected. Independent of the category of mastocytosis and the serum tryptase level, patients may suffer from mediator-related symptoms and/or osteopathy. Depending on the presence of co-morbidities, the symptomatology in such patients may be mild, severe or even life-threatening. Most relevant co-morbidities in such patients are IgE-dependent allergies, psychiatric, psychological or mental problems, and vitamin D deficiency. The diagnosis and management of mastocytosis is an emerging challenge in clinical practice and requires vast knowledge, a multidisciplinary approach, and personalized medicine procedures. In this article, the current knowledge about mastocytosis is reviewed with special emphasis on the multidisciplinary aspects of the disease and related challenges in daily practice.
Topics: Anaphylaxis; Biomarkers; Bone Diseases; Bone Marrow; Disease Management; Humans; Immunoglobulin E; Mast Cells; Mastocytosis; Mastocytosis, Systemic; Mutation; Precision Medicine; Prognosis; Proto-Oncogene Proteins c-kit; Risk; Severity of Illness Index
PubMed: 31216696
DOI: 10.3390/ijms20122976 -
Cancer Research Mar 2017Mastocytosis is a term used to denote a heterogeneous group of conditions defined by the expansion and accumulation of clonal (neoplastic) tissue mast cells in various... (Review)
Review
Mastocytosis is a term used to denote a heterogeneous group of conditions defined by the expansion and accumulation of clonal (neoplastic) tissue mast cells in various organs. The classification of the World Health Organization (WHO) divides the disease into cutaneous mastocytosis, systemic mastocytosis, and localized mast cell tumors. On the basis of histomorphologic criteria, clinical parameters, and organ involvement, systemic mastocytosis is further divided into indolent systemic mastocytosis and advanced systemic mastocytosis variants, including aggressive systemic mastocytosis and mast cell leukemia. The clinical impact and prognostic value of this classification has been confirmed in numerous studies, and its basic concept remains valid. However, refinements have recently been proposed by the consensus group, the WHO, and the European Competence Network on Mastocytosis. In addition, new treatment options are available for patients with advanced systemic mastocytosis, including allogeneic hematopoietic stem cell transplantation and multikinase inhibitors directed against KIT D816V and other key signaling molecules. Our current article provides an overview of recent advances in the field of mastocytosis, with emphasis on classification, prognostication, and emerging new treatment options in advanced systemic mastocytosis. .
Topics: Disease Progression; Humans; Mastocytosis
PubMed: 28254862
DOI: 10.1158/0008-5472.CAN-16-2234 -
Hematology/oncology Clinics of North... Jun 2000The most frequent site of organ involvement in individuals with any form of mastocytosis is the skin. Cutaneous lesions include urticaria pigmentosa, mastocytoma,... (Review)
Review
The most frequent site of organ involvement in individuals with any form of mastocytosis is the skin. Cutaneous lesions include urticaria pigmentosa, mastocytoma, diffuse and erythematous cutaneous mastocytosis, and telangiectasia macularis eruptiva perstans. The major histologic feature is an increase in the number of mast cells in the dermis. Treatment depends on the type of skin lesions.
Topics: Adult; Age of Onset; Aged; Child; Child, Preschool; Combined Modality Therapy; Cytokines; Eicosanoids; Flushing; Humans; Infant; Infant, Newborn; Mast Cells; Mast-Cell Sarcoma; Mastocytosis; Middle Aged; Organ Specificity; Proto-Oncogene Proteins c-kit; Skin Neoplasms; Stem Cell Factor; Telangiectasis; Urticaria Pigmentosa
PubMed: 10909039
DOI: 10.1016/s0889-8588(05)70295-1