-
Acta Medica Portuguesa Apr 2020Mastocytosis is characterized by the clonal expansion of morphological and immunophenotypically abnormal mast cells in different organs. The skin is the most frequently... (Review)
Review
INTRODUCTION
Mastocytosis is characterized by the clonal expansion of morphological and immunophenotypically abnormal mast cells in different organs. The skin is the most frequently affected tissue. Virtually all children and more than 80% of adult patients with mastocytosis show cutaneous lesions.
MATERIAL AND METHODS
The present article describes the symptoms and signs in cutaneous mastocytosis, based on the review of recently published international consensus guidelines.
DISCUSSION
According to the 2016 World Health Organization classification, mastocytosis can be divided in cutaneous mastocytosis, systemic mastocytosis and mast cell sarcoma. Cutaneous mastocytosis is subclassified in three subtypes: maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis and cutaneous astocytoma. Telangiectasia macularis eruptiva perstans is no longer considered a distinct entity.
CONCLUSION
Based on the age of onset, cutaneous manifestations of mastocytosis can be variable. The classification of cutaneous mastocytosis has recently been updated. Typically, in patients with childhood-onset mastocytosis, the disease occurs as cutaneous mastocytosis and shows spontaneous resolution around puberty. In contrast, adult patients, despite having also cutaneous lesions, often show systemic involvement and the course of the disease is usually chronic.
Topics: Adolescent; Adult; Age of Onset; Child; Humans; Mastocytosis; Mastocytosis, Cutaneous; Symptom Assessment
PubMed: 32238242
DOI: 10.20344/amp.12189 -
American Journal of Hematology Oct 2022
Topics: Humans; Mast-Cell Sarcoma
PubMed: 35266568
DOI: 10.1002/ajh.26525 -
Journal of Clinical Medicine Jun 2022Mastocytosis, a heterogeneous mastcell disease, include three different entities: cutaneous mastocytosis, systemic mastocytosis (SM) and mast-cell sarcoma. Tryptase... (Review)
Review
Mastocytosis, a heterogeneous mastcell disease, include three different entities: cutaneous mastocytosis, systemic mastocytosis (SM) and mast-cell sarcoma. Tryptase levels can differentiate cutaneous mastocytosis from SM. In mastocytosis, quick onset drug hypersensitivity reactions (DHRs) that are facilitated by mastcell mediators, are investigated in adults. Due to the limited number of children with mastcell disease and increased serum tryptase levels, the role of drugs in this age group is less studied. In this review, we critically assessed relevant papers related with immediate DHRs in children with mastocytosis and discuss practical issues of the management. In childhood mastocytosis, anaphylaxis is frequently idiopathic, and elevated level of basal tryptase, and high burden of disease may increase the risk. Among drugs, antibiotics, NSAIDs and opioids can potentially induce anaphylaxis, anyway avoidance should be recommended only in case of previous reactions. Moreover, vaccinations are not contraindicated in patients with mastocytosis. The risk of severe systemic reactions after drugs intake seems to be extremely low and in general lower in children than in adults. Anyway, studies on this topic especially focusing on children, are missing to state final recommendations.
PubMed: 35683540
DOI: 10.3390/jcm11113153 -
Blood Research Apr 2023Mastocytosis is a heterogeneous neoplasm characterized by accumulation of neoplastic mast cells in various organs. There are three main types: cutaneous mastocytosis... (Review)
Review
Mastocytosis is a heterogeneous neoplasm characterized by accumulation of neoplastic mast cells in various organs. There are three main types: cutaneous mastocytosis (CM), systemic mastocytosis (SM), and mast cell sarcoma. CM mainly affects children and is confined to the skin, whereas SM affects adults and is characterized by extracutaneous involvement, with or without cutaneous involvement. Most cases of SM have an indolent clinical course; however, some types of SM have aggressive behavior and a poor prognosis. Recent advances in the understanding of the molecular changes in SM have changed the diagnosis and treatment of aggressive and advanced SM subtypes. The International Consensus Classification and World Health Organization refined the diagnostic criteria and classification of SM as a result of accumulation of clinical experience and advances in molecular diagnostics. Somatic mutations in the gene, most frequently , are detected in 90% of patients with SM. Expression of CD30 and any mutation were introduced as minor diagnostic criteria after the introduction of highly sensitive screening methods. SM has a wide spectrum of clinical features, and only a few drugs are effective at treating advanced SM. Currently, the mainstay of SM treatment is limited to the management of chronic symptoms related to release of mast cell mediators. Small-molecule kinase inhibitors targeting the KIT-downstream and KIT-independent pathways were recently approved for treating advanced SM. I describe recent advances in diagnosis of SM, and review the currently available and emerging therapeutic options for SM management.
PubMed: 37105564
DOI: 10.5045/br.2023.2023024 -
Immunology and Allergy Clinics of North... Aug 2018Mastocytosis is a heterogeneous group of neoplasms that involve the clonal expansion of mast cells into one or more organ systems, which typically involves the skin and... (Review)
Review
Mastocytosis is a heterogeneous group of neoplasms that involve the clonal expansion of mast cells into one or more organ systems, which typically involves the skin and hematopoietic systems. Systemic mastocytosis consists of a multifocal infiltration of mast cells into various noncutaneous tissue sites, especially the bone marrow. Diagnosis requires tissue confirmation, and algorithms have been developed to assist clinicians in this process. The current classification system focuses on delineating prognostic categories. Therapeutic approaches include symptomatic management, prevention of complications, and, in advanced disease, cytoreductive therapy.
Topics: Animals; Clone Cells; Cytoreduction Surgical Procedures; Humans; Mast Cells; Mastocytosis; Prognosis; Proto-Oncogene Proteins c-kit; Skin; Tryptases
PubMed: 30007455
DOI: 10.1016/j.iac.2018.04.014 -
Veterinary and Comparative Oncology Jun 2018Prognosis of feline gastrointestinal mast cell tumours (FGIMCT), based on limited available literature, is described as guarded to poor, which may influence treatment...
Prognosis of feline gastrointestinal mast cell tumours (FGIMCT), based on limited available literature, is described as guarded to poor, which may influence treatment recommendations and patient outcome. The purpose of this study is to describe the clinical findings, treatment response, and outcome of FGIMCT. Medical records of 31 cats diagnosed with and treated for FGIMCT were retrospectively reviewed. Data collected included signalment, method of diagnosis, tumour location (including metastatic sites), treatment type, cause of death and survival time. Mean age was 12.9 y. Diagnosis was made via cytology (n = 15), histopathology (n = 13) or both (n = 3). Metastatic sites included abdominal lymph node (n = 10), abdominal viscera (n = 4) and both (n = 2). Therapeutic approaches included chemotherapy alone (n = 15), surgery and chemotherapy (n = 7), glucocorticoid only (n = 6) and surgery and glucocorticoid (n = 3). Lomustine (n = 15) and chlorambucil (n = 12) were the most commonly used chemotherapy drugs. Overall median survival time was 531 d (95% confidence interval 334, 982). Gastrointestinal location, diagnosis of additional cancers, and treatment type did not significantly affect survival time. Cause of death was tumour-related or unknown (n = 12) and unrelated (n = 8) in the 20 cats dead at the time of analysis. The prognosis for cats with FGIMCT may be better than previously reported, with 26% of cats deceased from an unrelated cause. Surgical and medical treatments (including prednisolone alone) were both associated with prolonged survival times. Treatment other than prednisolone may not be necessary in some cats. Continued research into prognostic factors and most effective treatment strategies are needed.
Topics: Animals; Antineoplastic Agents; Cat Diseases; Cats; Databases, Factual; Female; Gastrointestinal Neoplasms; Hospitals, Animal; Kaplan-Meier Estimate; Male; Mast Cells; Mast-Cell Sarcoma; Neoplasm Staging; Retrospective Studies; Schools, Veterinary; Survival; Treatment Outcome; United States
PubMed: 28560846
DOI: 10.1111/vco.12326 -
British Journal of Haematology Feb 2024Mastocytosis constitutes the neoplastic proliferation of mast cells and is broadly classified into systemic mastocytosis (SM), cutaneous mastocytosis and mast cell... (Review)
Review
Mastocytosis constitutes the neoplastic proliferation of mast cells and is broadly classified into systemic mastocytosis (SM), cutaneous mastocytosis and mast cell sarcoma. SM is further partitioned into advanced (AdvSM) and non-advanced (SM-non-Adv) subcategories. AdvSM includes aggressive SM (ASM), SM with an associated haematological neoplasm (SM-AHN) and mast cell leukaemia (MCL). In 2022, two separate expert committees representing the 5th edition of the World Health Organization (WHO5) and the International Consensus (ICC) classification systems submitted revised classification criteria for SM, highlighted by the ICC-proposed incorporation of mast cell cytomorphology in the diagnostic criteria for MCL and myeloid-lineage restriction for the AHN component in SM-AHN. Recent developments in SM also include the introduction of KIT-targeting tyrosine kinase inhibitors (KITi), including midostaurin and avapritinib, both drugs have shown potent activity in reducing mast cell and mutant KIT burden and alleviating mast cell-associated organopathy and mediator symptoms; however, their overall impact on survival or superiority over pre-KITi era treatment options (e.g. cladribine) has not been studied in a controlled setting. In the current review, we provide a summary of recent changes in disease classification and an analysis of recent clinical trials and their impact on our current treatment approach in AdvSM.
Topics: Humans; Mastocytosis, Systemic; Mast Cells; Leukemia, Mast-Cell; Cladribine; Mastocytosis; Proto-Oncogene Proteins c-kit
PubMed: 38054381
DOI: 10.1111/bjh.19245 -
Clinical Cancer Research : An Official... Oct 2018Kaposi sarcoma (KS) is a vascular tumor initiated by infection of endothelial cells (ECs) with KS-associated herpesvirus (KSHV). KS is dependent on sustained...
Kaposi sarcoma (KS) is a vascular tumor initiated by infection of endothelial cells (ECs) with KS-associated herpesvirus (KSHV). KS is dependent on sustained proinflammatory signals provided by intralesional leukocytes and continued infection of new ECs. However, the sources of these cytokines and infectious virus within lesions are not fully understood. Here, mast cells (MCs) are identified as proinflammatory cells within KS lesions that are permissive for, and activated by, infection with KSHV. Three validated MC lines were used to assess permissivity of MCs to infection with KSHV and to evaluate MCs activation following infection. Biopsies from 31 AIDS-KS cases and 11 AIDS controls were evaluated by IHC for the presence of MCs in KS lesions and assessment of MC activation state and infection with KSHV. Plasma samples from 26 AIDS-KS, 13 classic KS, and 13 healthy adults were evaluated for levels of MC granule contents tryptase and histamine. In culture, MCs supported latent and lytic KSHV infection, and infection-induced MC degranulation. Within KS lesions, MCs were closely associated with spindle cells. Furthermore, MC activation was extensive within patients with KS, reflected by elevated circulating levels of tryptase and a histamine metabolite. One patient with clinical signs of extensive MC activation was treated with antagonists of MC proinflammatory mediators, which resulted in a rapid and durable regression of AIDS-KS lesions. Using complimentary and studies we identify MCs as a potential long-lived reservoir for KSHV and a source of proinflammatory mediators within the KS lesional microenvironment. In addition, we identify MC antagonists as a promising novel therapeutic approach for KS. .
Topics: Adult; Aged; Aged, 80 and over; Biomarkers; Cytokines; Disease Susceptibility; Female; Herpesviridae Infections; Herpesvirus 8, Human; Humans; Immunohistochemistry; Male; Mast Cells; Methylhistamines; Middle Aged; Models, Biological; Sarcoma, Kaposi; Skin; Tryptases
PubMed: 30084838
DOI: 10.1158/1078-0432.CCR-18-0873 -
Cellular Immunology Sep 2019Osteosarcoma is a rare primary bone cancer characterized by cancer cells producing calcified osteoid extracellular matrix and inducing lung metastases with a high... (Review)
Review
Osteosarcoma is a rare primary bone cancer characterized by cancer cells producing calcified osteoid extracellular matrix and inducing lung metastases with a high frequency. The local microenvironment defined several tumor niches controlling the tumor growth and cell extravasation. The immune infiltrate composes one of these niches. The immune environment of osteosarcoma is mainly composed by T-lymphocytes and macrophages but also contains other subpopulations including B-lymphocytes and mast cells. Osteosarcoma cells control the recruitment and differentiation of immune infiltrating cells and establish a local immune tolerant environment favorable to the tumor growth, drug resistance and the occurrence of metastases. Osteosarcoma cells are able to affect the balance between M1 and M2 macrophage subtypes and so could control the T-lymphocyte responses via the PD-1/PDL-1 system. In addition, mesenchymal stem cells may also contribute to this immune tolerance and strengthen the immune evasion. The present review gives a brief overview of the immune components of osteosarcoma and their most recent therapeutic interests.
Topics: Animals; Bone Neoplasms; Humans; Lymphocyte Subsets; Macrophages; Mesenchymal Stem Cells; Osteosarcoma; Tumor Microenvironment
PubMed: 29117898
DOI: 10.1016/j.cellimm.2017.10.011 -
Seminars in Cancer Biology Feb 2020The development of a myeloid neoplasm is a step-wise process that originates from leukemic stem cells (LSC) and includes pre-leukemic stages, overt leukemia and a... (Review)
Review
The development of a myeloid neoplasm is a step-wise process that originates from leukemic stem cells (LSC) and includes pre-leukemic stages, overt leukemia and a drug-resistant terminal phase. Organ-invasion may occur in any stage, but is usually associated with advanced disease and a poor prognosis. Sometimes, extra-medullary organ invasion shows a metastasis-like or even sarcoma-like destructive growth of neoplastic cells in local tissue sites. Examples are myeloid sarcoma, mast cell sarcoma and localized blast phase of chronic myeloid leukemia. So far, little is known about mechanisms underlying re-distribution and extramedullary dissemination of LSC in myeloid neoplasms. In this article, we discuss mechanisms through which LSC can mobilize out of the bone marrow niche, can transmigrate from the blood stream into extramedullary organs, can invade local tissue sites and can potentially create or support the formation of local stem cell niches. In addition, we discuss strategies to interfere with LSC expansion and organ invasion by targeted drug therapies.
Topics: Animals; Biomarkers; Bone Marrow; Cell Communication; Cell Movement; Humans; Immunophenotyping; Leukemia, Myeloid; Neoplasm Staging; Neoplastic Stem Cells; Phenotype; Recurrence; Transendothelial and Transepithelial Migration; Tumor Microenvironment
PubMed: 31408723
DOI: 10.1016/j.semcancer.2019.07.025