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    1 OF 132

    Key Issues in Hymenoptera Venom Allergy: An Update.
    J Investig Allergol Clin Immunol 2017 ;27(1):19-31
    Hospital Universitario Clínico San Carlos, Madrid, Spain.
    In this review, the Hymenoptera Allergy Committee of the SEAIC analyzes the most recent scientific literature addressing problems related to the diagnosis of hymenoptera allergy and to management of venom immunotherapy. Molecular diagnosis and molecular risk profiles are the key areas addressed. The appearance of new species of hymenoptera that are potentially allergenic in Spain and the associated diagnostic and therapeutic problems are also described. Read More


    Mastering gut permeability: New roles for old friends.
    Eur J Immunol 2017 Feb;47(2):236-239
    Infection and Immunity Program, Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.
    Mast cells are innate immune cells that respond rapidly to infection in barrier tissues such as the skin and intestinal mucosa. Expulsion of parasitic worms in the gut involves a robust type 2 host response, and an acute mastocytosis is often generated at the site of infection. However, the role of mast cells in resistance to worm infections appears to be parasite specific. Read More

    Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report.
    A A Case Rep 2017 Feb 8. Epub 2017 Feb 8.
    From the Departments of *Anesthesiology, †Allergy, and §Cardiology, Hospital Universitario de Guadalajara, Castilla-La Mancha, Spain; ‡Department of Surgery, Hospital Universitario Quirónsalud Madrid, Madrid, Spain.
    Mastocytosis comprises a heterogeneous group of disorders characterized by mast cell accumulation and proliferation in distinct organs. Kounis syndrome is defined as the concurrence of acute coronary syndromes with mast cell activation in a setting of allergic or hypersensitivity reactions. This is the first reported case of an intraoperative Kounis syndrome as the onset of an indolent systemic mastocytosis probably triggered by succinylated gelatin infusion during general anesthesia. Read More

    Successful Management of a Patient With Possible Mast Cell Activation Syndrome Undergoing Pulmonary Embolectomy: A Case Report.
    A A Case Rep 2017 Feb 8. Epub 2017 Feb 8.
    From the Departments of *Anesthesiology and †Critical Care, Emory University, Atlanta, Georgia.
    We report the successful perioperative management of a patient with presumed mastocytosis undergoing pulmonary embolectomy. Postoperatively the patient went into vasodilatory shock, which was partly attributed to mast cell mediator release. H1- and H2-antagonists, steroids, and a single dose of methylene blue were given with improvement of hemodynamics. Read More

    Treatment outcomes and prognostic factors of feline splenic mast cell tumors: A multi-institutional retrospective study of 64 cases.
    Vet Comp Oncol 2017 Feb 7. Epub 2017 Feb 7.
    School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
    Background: Mast cell tumors (MCT) are common splenic tumors in cats, but there is limited information on treatment outcomes of cats with this disease.

    Materials And Methods: This retrospective study evaluated treatment outcomes in 64 cats with splenic MCT. Cats were categorized into the following treatment groups: splenectomy (A, n = 20); splenectomy with chemotherapy (B, n = 20); chemotherapy alone (C, n = 15); or supportive care (D, n = 9). Read More

    Pathogenesis and Pathology of Mastocytosis.
    Annu Rev Pathol 2017 Jan;12:487-514
    Tel Hai College, Upper Galilee, 1220800 Israel; email:
    Systemic mastocytosis is a clonal disorder of mast cells that may variably present with characteristic skin lesions, episodes of mast cell mediator release, and disturbances of hematopoiesis. No curative therapy presently exists. Conventional management has relied on agents that antagonize mediators released by mast cells, inhibit mediator secretion, or modulate mast cell proliferation. Read More

    Longitudinal Study of Pediatric Urticaria Pigmentosa.
    Pediatr Dermatol 2017 Jan 30. Epub 2017 Jan 30.
    Department of Dermatology, Mayo Clinic Health System, Eau Claire, Wisconsin.
    Background/objectives: Urticaria pigmentosa (UP) is the most common form of mastocytosis in children and is associated with systemic signs, symptoms, and triggers. To our knowledge, the effect of UP on children's quality of life has not been studied. The objective of the current study was to characterize the natural history, triggers, and complications of pediatric UP, identify prognostic indicators, and determine its effect on quality of life. Read More

    Nerve growth factor: a neuroimmune crosstalk mediator for all seasons.
    Immunology 2017 Jan 23. Epub 2017 Jan 23.
    Department of Pharmaceutical and Pharmacological Sciences, University of Padua, 35131, Padua, Italy.
    Neurotrophic factors comprise a broad family of biomolecules - most of which are peptides or small proteins - that support the growth, survival, and differentiation of both developing and mature neurons. The prototypical example and best-characterized neurotrophic factor is nerve growth factor (NGF) which is widely recognized as a target-derived factor responsible for the survival and maintenance of the phenotype of specific subsets of peripheral neurons and basal forebrain cholinergic nuclei during development and maturation. In addition to being active in a wide array of non-nervous system cells NGF is also synthesized by a range of cell types not considered as classical targets for innervation by NGF-dependent neurons; these include cells of the immune-hematopoietic lineage and to populations in the brain involved in neuroendocrine functions. Read More

    IgE-Related Chronic Diseases and Anti-IgE-Based Treatments.
    J Immunol Res 2016 21;2016:8163803. Epub 2016 Dec 21.
    Biochemistry Unit, Biomedicine Department, Faculty of Medicine, University of Barcelona, Casanova 143, 08036 Barcelona, Spain.
    IgE is an immunoglobulin that plays a central role in acute allergic reactions and chronic inflammatory allergic diseases. The development of a drug able to neutralize this antibody represents a breakthrough in the treatment of inflammatory pathologies with a probable allergic basis. This review focuses on IgE-related chronic diseases, such as allergic asthma and chronic urticaria (CU), and on the role of the anti-IgE monoclonal antibody, omalizumab, in their treatment. Read More

    Progressive multifocal leukoencephalopathy in a patient with systemic mastocytosis treated with cladribine.
    J Clin Virol 2016 Dec 14;88:17-20. Epub 2016 Dec 14.
    Department of Neurology, Nordland Hospital Trust, Bodø, Norway; Institue Clinical Medicine, UiT The Arctic University of Tromsø, Tromsø, Norway.
    Background: Progressive multifocal leukoencephalopathy (PML) is a rare opportunistic brain infection caused by the human polyomavirus JC (JCPyV). A particular problem with the drug cladribine seems to be prolonged suppression of the CD4+ T-cells, a well-known risk factor for PML.

    Case Description: A 67-year-old male presented with a 3-weeks history of unsteady gait, dysarthria and a dysfunctional right arm. Read More

    Vaccination Management In Children and Adults With Mastocytosis.
    Clin Exp Allergy 2017 Jan 12. Epub 2017 Jan 12.
    Allergy Unit Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
    Mastocytosis includes a heterogeneous group of disorders characterized by the presence of clonal mast cells (MC) in cutaneous tissues and extracutaneous organs [1,2]. The disease presents in two primary age-related patterns, which may differ in their clinical manifestations and prognosis [1,2]. Pediatric-onset mastocytosis usually consists of cutaneous disease and tends to resolve itself by adolescence in most cases, in contrast to adult-onset mastocytosis which has a normal chronic course [2]. Read More

    Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib.
    Int J Dermatol 2017 Feb;56(2):195-201
    Department of Surgery, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Puducherry, India.
    Background: Familial lentiginosis syndromes are characterized by a wide array of manifestations resulting from activation of molecular pathways which control growth, proliferation, and differentiation of a broad range of tissues. Familial gastrointestinal stromal tumors (GISTs) are often accompanied by additional features like hyperpigmentation, mastocytosis, and dysphagia. They have been described with mutations in c-kit (most commonly), platelet-derived growth factor receptor A, neurofibromatosis-1, and succinate dehydrogenase genes. Read More

    Clonal reticulohistiocytosis of the skin and bone marrow associated with systemic mastocytosis and acute myeloid leukaemia.
    Histopathology 2017 Jan 11. Epub 2017 Jan 11.
    Division of Pathology, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.
    Aims: The aims of this study were to define whether diffuse cutaneous reticulohistiocytosis could be underpinned by somatic genetic alterations and represent precursor to more aggressive forms of disease.

    Methods And Results: A 59-year-old man with diffuse cutaneous reticulohistiocytosis, experienced bone marrow localisation of the disease, with associated systemic mastocytosis and acute myeloid leukaemia. Cytogenetic analyses of the bone marrow aspirate revealed the presence of a derivative chromosome giving rise to a partial trisomy of chromosome 1q and a partial monosomy of chromosome 9q. Read More

    Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study.
    Lancet 2017 Feb 7;389(10069):612-620. Epub 2017 Jan 7.
    Department of Hematology, Université Paris Descartes, Hôpital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Institut Imagine INSERM U1163 and CNRS ERL8654, Université Paris Descartes, Hôpital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; AB Science, Paris, France. Electronic address:
    Background: Indolent systemic mastocytosis, including the subvariant of smouldering systemic mastocytosis, is a lifelong condition associated with reduced quality of life. Masitinib inhibits KIT and LYN kinases that are involved in indolent systemic mastocytosis pathogenesis. We aimed to assess safety and efficacy of masitinib versus placebo in severely symptomatic patients who were unresponsive to optimal symptomatic treatments. Read More

    Concurrent multiple myeloma and mast cell neoplasia in a 13-year-old castrated male Maine Coon cat.
    Vet Clin Pathol 2017 Jan 9. Epub 2017 Jan 9.
    Department of Pathobiology, Oklahoma State University, Stillwater, OK, USA.
    A 13-year-old, castrated male Maine Coon cat was presented to Oklahoma State University Boren Veterinary Medical Teaching Hospital for yearly echocardiographic examination monitoring hypertrophic cardiomyopathy (HCM) diagnosed in 2003. Physical examination revealed a heart murmur and premature beats, likely related to HCM, but was otherwise unremarkable. A biochemistry profile revealed a hyperglobulinemia (6. Read More

    Genomic profiling of canine mast cell tumors identifies DNA copy number aberrations associated with KIT mutations and high histological grade.
    Chromosome Res 2017 Jan 5. Epub 2017 Jan 5.
    Department of Molecular Biomedical Sciences, College of Veterinary Medicine, North Carolina State University, 1060 William Moore Drive, Raleigh, NC, 27607, USA.
    Mast cell tumor (MCT) is the most common skin malignancy of domestic dogs and presents with a widely variable clinical behavior. Although activating KIT mutations are present in approximately 20% of canine MCTs, molecular etiology is largely unknown for the majority of this cancer. Characterization of genomic alterations in canine MCTs may identify genomic regions and/or genes responsible for their development and progression, facilitating the discovery of new therapeutic targets and improved clinical management of this heterogeneous cancer. Read More

    Quantification of human diamine oxidase.
    Clin Biochem 2016 Dec 29. Epub 2016 Dec 29.
    Department of Clinical Pharmacology, Medical University of Vienna, Waehringer Guertel 18-20, 1090 Vienna, Austria.
    Objectives: Diamine oxidase (DAO) is essential for extracellular degradation of histamine. For decades activity assays with inherent limitations were used to quantify the relative amounts of DAO. No reference DAO standard is available. Read More

    Histone deacetylase inhibitor SAHA mediates mast cell death and epigenetic silencing of constitutively active D816V KIT in systemic mastocytosis.
    Oncotarget 2016 Dec 25. Epub 2016 Dec 25.
    Department of Medicine Huddinge, Karolinska Institutet and Hematology Center, Karolinska University Hospital, Stockholm, Sweden.
    Systemic mastocytosis (SM) is a clonal bone marrow disorder, where therapeutical options are limited. Over 90% of the patients carry the D816V point mutation in the KIT receptor that renders this receptor constitutively active. We assessed the sensitivity of primary mast cells (MC) and mast cell lines HMC1. Read More

    Mastocytosis 2016: Updated WHO Classification and Novel Emerging Treatment Concepts.
    Blood 2016 Dec 28. Epub 2016 Dec 28.
    Mast Cell Biology Section, Laboratory of Allergic Diseases, NIAID, NIH, Bethesda, MD, United States.
    Over the past few years substantial advances have been made in understanding the pathogenesis, evolution, and complexity of mast cell neoplasms. New diagnostic and prognostic parameters and novel therapeutic targets with demonstrable clinical impact have been identified. A number of these new markers, molecular targets, and therapeutic approaches have been validated and translated into clinical practice. Read More

    [Mastocytosis : Clinical aspects, diagnostics, therapy].
    Hautarzt 2017 Jan;68(1):67-75
    Mastozytosezentrum der Klinik für Dermatologie, Venerologie, Allergologie, Universitätsmedizin Göttingen, Robert-Koch-Straße 40, 37075, Göttingen, Deutschland.
    Mastocytosis is a rare, almost exclusively sporadically occurring disease involving an increase in clonal tissue mast cells. The disease spectrum is heterogenous, ranging from isolated skin lesions with a normal life expectancy to rare, aggressive forms with very poor prognosis. Children are often affected. Read More

    A new era for cutaneous CD30-positive T-cell lymphoproliferative disorders.
    Semin Diagn Pathol 2016 Nov 29. Epub 2016 Nov 29.
    Kempf und Pfaltz, Histologische Diagnostik, Zürich, Switzerland; Department of Dermatology, University Hospital Zurich, CH-8091, Zurich, Switzerland. Electronic address:
    Cutaneous CD30+ T-cell lymphoproliferative disorders (CD30+ T-LPD) represent a spectrum encompassing lymphomatoid papulosis (LyP), primary cutaneous anaplastic large-cell lymphoma (pcALCL) and borderline lesions. They share the expression of CD30 as a common phenotypic marker. They differ however in their clinical presentation, the histological features and clinical course. Read More

    Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene.
    Pediatr Dermatol 2017 Jan 16;34(1):84-89. Epub 2016 Dec 16.
    (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Alava, Spain.
    Background: Familial progressive hyperpigmentation (FPH) is an autosomal dominant disorder characterized by the appearance of hyperpigmented patches on the skin from early infancy that increase in size and number with age.

    Methods: We report the clinical and molecular studies of an 11-year-old boy who had areas of hyperpigmentation since birth that had spread across his body as irregular hyperpigmented macules and papules, and include relevant history in family members.

    Results: Affected members of his family shared a mutation in the c-KIT gene. Read More

    Different clinical allergological features of Taenia solium infestation.
    Clin Mol Allergy 2016 7;14:18. Epub 2016 Dec 7.
    School and Division of Allergy and Clinical Immunology, Department of Clinical and Experimental Medicine, University Hospital "G. Martino", Messina, Italy ; Institute of Applied Sciences and Intelligent Systems (ISASI), Messina Unit, Messina, Italy.
    The tapeworm Taenia (T.) solium can be responsible for two different conditions: taeniasis and cysticercosis. Helminth infections in human host cause an immune response associated with elevated levels of IgE, tissue eosinophilia and mastocytosis, and with the presence of CD4+ T cells that preferentially produce IL-4, IL-5, and IL-13. Read More

    Mast cell disorders: Kids are not just little people.
    Clin Dermatol 2016 Nov - Dec;34(6):760-766. Epub 2016 Jul 9.
    Department of Dermatology, University of Connecticut School of Medicine, Farmington, CT.
    Cutaneous mastocytosis is characterized by a pathologic increase in mast cells in the skin and may also involve extracutaneous organs. Symptoms, which are triggered by mast cell degranulation, vary depending on the burden of skin disease and the presence of extracutaneous disease. The clinical presentation, risk of systemic disease, pathogenesis, prognosis, and treatment options differ, largely depending on age at presentation. Read More

    Mast Cell Clonal Disorders: Classification, Diagnosis and Management.
    Curr Treat Options Allergy 2016 8;3(4):453-464. Epub 2016 Nov 8.
    Department of Allergology, University Medical Center Groningen, University of Groningen, and Groningen Research Institute for Asthma and COPD, Groningen, The Netherlands.
    Mast cell clonal disorders are characterized by the clonal proliferation of pathological mast cells as a result of somatic mutations in the KIT gene, most commonly the D816V mutation. Accumulation and degranulation of these cells causes a wide variety of symptoms. Mast cell clonal disorders can be divided into mastocytosis and monoclonal mast cell activation syndrome, depending of the level of clonality. Read More

    An update on mast cell disorders.
    Clin Med (Lond) 2016 Dec;16(6):580-583
    St John's Institute of Dermatology, Guys and St Thomas's Hospitals, London, UK.
    Disorders of mast cell activation can be classified as primary (mastocytosis), secondary (reactive) or idiopathic. This article discusses how to recognise and approach the diagnosis of patients suspected to have symptoms of abnormal mast cell activation. Given the highly varied and often complex symptomatology of such patients, we advocate applying a logical step-wise approach to investigating these patients to ensure the correct diagnosis is made. Read More

    Systemic Mastocytosis Causing Refractory Pruritus in a Liver Disease Patient.
    ACG Case Rep J 2016 Aug 23;3(4):e152. Epub 2016 Nov 23.
    Division of Gastroenterology and Hepatology, University of Arkansas for Medical Sciences, Little Rock, AR.
    Systemic mastocytosis (SM) results from clonal, neoplastic proliferation of abnormal mast cells. Patients become susceptible to itching, urticaria, and anaphylactic shock, which occurs due to histamine release from mast cells. SM may coexist alongside other systemic diseases, thus confounding the overall clinical presentation. Read More

    IL-9-producing cells in the development of IgE-mediated food allergy.
    Semin Immunopathol 2017 Jan 1;39(1):69-77. Epub 2016 Dec 1.
    Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Burnet Avenue, Cincinnati, OH, 45229, USA.
    Food allergy is a harmful immune reaction driven by uncontrolled type 2 immune responses. Considerable evidence demonstrates the key roles of mast cells, IgE, and TH2 cytokines in mediating food allergy. However, this evidence provides limited insight into why only some, rather than all, food allergic individuals are prone to develop life-threatening anaphylaxis. Read More

    Advances in the understanding and clinical management of mastocytosis and clonal mast cell activation syndromes.
    F1000Res 2016 14;5:2666. Epub 2016 Nov 14.
    Centro de Investigación del Cáncer/IBMCC (CSIC/USAL), Departamento de Medicina, IBSAL and Servicio General de Citometría, University of Salamanca, Salamanca, 37007, Spain.
    Clonal mast cell activation syndromes and indolent systemic mastocytosis without skin involvement are two emerging entities that sometimes might be clinically difficult to distinguish, and they involve a great challenge for the physician from both a diagnostic and a therapeutic point of view. Furthermore, final diagnosis of both entities requires a bone marrow study; it is recommended that this be done in reference centers. In this article, we address the current consensus and guidelines for the suspicion, diagnosis, classification, treatment, and management of these two entities. Read More

    Mastocytosis and Anaphylaxis.
    Immunol Allergy Clin North Am 2017 Feb 28;37(1):153-164. Epub 2016 Oct 28.
    Department of Dermatology and Allergy Biederstein, Technische Universität München, Munich, Germany. Electronic address:
    This article updates current knowledge on epidemiology, risk factors, triggers, and management of anaphylaxis in patients with mastocytosis. Hyperactive mast cells and higher number of effector mast cells are speculated to facilitate anaphylaxis in this condition. In children, increased risk is limited to those with extensive skin involvement and high tryptase. Read More

    CCL2 is a KIT D816V-dependent modulator of the bone marrow microenvironment in systemic mastocytosis.
    Blood 2017 Jan 16;129(3):371-382. Epub 2016 Nov 16.
    Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
    Systemic mastocytosis (SM) is characterized by abnormal accumulation of neoplastic mast cells harboring the activating KIT mutation D816V in the bone marrow and other internal organs. As found in other myeloproliferative neoplasms, increased production of profibrogenic and angiogenic cytokines and related alterations of the bone marrow microenvironment are commonly found in SM. However, little is known about mechanisms and effector molecules triggering fibrosis and angiogenesis in SM. Read More

    Developing food allergy: a potential immunologic pathway linking skin barrier to gut.
    F1000Res 2016 10;5. Epub 2016 Nov 10.
    Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45299-3026, USA.
    Immunoglobulin E (IgE)-mediated food allergy is an adverse reaction to foods and is driven by uncontrolled type-2 immune responses. Current knowledge cannot explain why only some individuals among those with food allergy are prone to develop life-threatening anaphylaxis. It is increasingly evident that the immunologic mechanisms involved in developing IgE-mediated food allergy are far more complex than allergic sensitization. Read More

    A Dog Is a Doctor's Best Friend: The Use of a Service Dog as a Perioperative Assistant.
    Case Rep Pediatr 2016 23;2016:9013520. Epub 2016 Oct 23.
    Duke University Medical Center, Durham, NC, USA.
    Service dogs are beneficial in providing assistance to people with multiple types of disabilities and medical disorders including visual impairment, physical disabilities, seizure disorders, diabetes, and mental illness. Some service animals have been trained as a screening tool for cancer. We review a case involving a 6-year-old female with a history of mast cell mediator release and immediate hypersensitivity due to the urticaria pigmentosa variant of cutaneous mastocytosis who underwent a cystourethroscopy. Read More

    Transient hypogammaglobulinaemia of infants in children with mastocytosis - strengthened indications for vaccinations.
    Cent Eur J Immunol 2016 25;41(3):282-286. Epub 2016 Oct 25.
    Department of Paediatrics, Haematology, and Oncology, Medical University of Gdansk, Poland.
    Mastocytosis is a disease caused by the accumulation of mast cells (MC) in the skin and/or in other tissues. Both the cutaneous form of the disease (CM) predominating in children and the systemic form (SM) typical for adults are associated with the occurrence of MC mediator-related symptoms. The release of mediators can be induced by physical stimuli and/or specific triggering factors. Read More

    Anaphylactic shock during cement implantation of a total hip arthroplasty in a patient with underlying mastocytosis: case report of a rare intraoperative complication.
    Patient Saf Surg 2016 5;10:25. Epub 2016 Nov 5.
    Department of Orthopaedic Surgery, Martini Hospital Groningen, van Swietenplein 1, 9728 NT Groningen, The Netherlands.
    Background: Cemented total hip arthroplasty (THA) is a safe and common procedure. In rare cases life threatening bone cement implantation syndrome (BCIS) may occur, which is commonly caused by pulmonary embolism (PE).

    Case Presentation: We describe the rare case of a 70-year old patient who underwent an elective total hip replacement. Read More

    Ileal Pouch Biopsy Triggers Investigation and Diagnosis of Systemic Mastocytosis.
    ACG Case Rep J 2016 Aug 3;3(4):e94. Epub 2016 Aug 3.
    Department of Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH.
    We report a unique case of systemic mastocytosis (SM) diagnosed in an ileal pouch biopsy obtained from a 44-year-old woman with ulcerative colitis. She presented with intermittent abdominal pain and watery diarrhea that did not respond to antibiotic therapy. The pouch biopsy showed expansion of the lamina propria by aggregates of CD117 and CD25-positive abnormal mast cells. Read More

    The Role of TRAF4 and B3GAT1 Gene Expression in the Food Hypersensitivity and Insect Venom Allergy in Mastocytosis.
    Arch Immunol Ther Exp (Warsz) 2016 Dec 16;64(6):497-503. Epub 2016 Apr 16.
    Department of Allergology, Medical University of Gdansk, Gdańsk, Poland.
    Mastocytosis is an uncommon disease classified as a myeloproliferative neoplasm, however, its symptoms are broad and place patients at crossroads between dermatology, hematology and allergology. Patients with mastocytosis often suffer from symptoms resulting from the activation and release of mediators from the mast cells, such as generalized itching, redness, headache, abdominal cramps, diarrhea, bone pain or arthritis, hypotension and shock. The possible severe, fatal or near fatal reactions caused by food hypersensitivity are reasons for the research focused on marker identification. Read More

    [Diffuse cutaneous mastocytosis of an infant: A case report].
    Arch Pediatr 2016 Nov 23;23(11):1150-1152. Epub 2016 Sep 23.
    Service de dermatologie, centre hospitalier universitaire Ibn Sina, rue Famfdal Cherkaoui, BP 6527, 10000 Rabat, Maroc.
    Mastocytosis is a group of diseases related to abnormal accumulation and proliferation of mast cells in one or more organs. They may be associated with an acquired point mutation and the activation of the receptor tyrosine-kinase c-KIT of CFS (mast cell growth factor). The clinical manifestations are varied and secondary to the release of mast cell mediators and/or infiltration of various organs. Read More

    Constitutive Kit activity triggers B-cell acute lymphoblastic leukemia-like disease in mice.
    Exp Hematol 2017 Jan 21;45:45-55.e6. Epub 2016 Sep 21.
    Institute for Immunology, Medical Faculty Carl Gustav Carus, TU Dresden, Dresden, Germany. Electronic address:
    Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and, in most cases, is of pro- or pre-B cell origin (B-ALL). The receptor tyrosine kinase KIT is expressed by hematopoietic stem and precursor cells. Gain-of-function mutations of KIT cause systemic mastocytosis, which is characterized by abnormal accumulations of mast cells. Read More

    Bone Health in Patients With Hematopoietic Disorders of Bone Marrow Origin: Systematic Review and Meta- Analysis.
    J Bone Miner Res 2016 Oct 27. Epub 2016 Oct 27.
    Shriners Hospital for Children-Canada, Montreal, Canada.
    Blood cell production and bone homeostasis are physically interlinked systems that exhibit active cross-talk. We examined how bone health is affected in patients with hematopoietic disorders due to abnormal proliferation of bone marrow cells. The electronic databases Medline, Embase, PubMed, BIOSIS Previews, Web of Science, and Cochrane were searched for studies presenting numerical values for trabecular bone volume or bone mineral density in control and patients with hematopoietic disorders. Read More

    A new humanized in vivo model of KIT D816V+ advanced systemic mastocytosis monitored using a secreted luciferase.
    Oncotarget 2016 Dec;7(50):82985-83000
    Molecular and Cellular Oncology Research Group, LBPA CNRS UMR 8113, Ecole Normale Supérieure de Cachan, Cachan, France.
    Systemic mastocytosis are rare neoplasms characterized by accumulation of mast cells in at least one internal organ. The majority of systemic mastocytosis patients carry KIT D816V mutation, which activates constitutively the KIT receptor. Patient with advanced forms of systemic mastocytosis, such as aggressive systemic mastocytosis or mast cell leukemia, are poorly treated to date. Read More

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