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    Topical pimecrolimus for paediatric cutaneous mastocytosis.
    Clin Exp Dermatol 2018 Feb 20. Epub 2018 Feb 20.
    Pediatric Dermatology Unit, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
    Background: Most cases of paediatric cutaneous mastocytosis (CM) occur before the age of 2 years, and regression occurs in only 67% of children. Given the absence of any specific therapy, CM is usually treated symptomatically. A few publications have reported the beneficial effect of calcineurin inhibitors for CM. Read More

    De novo mast cell leukemia without CD25 expression and KIT mutations: a rare case report in a 13-year-old child.
    Diagn Pathol 2018 Feb 20;13(1):14. Epub 2018 Feb 20.
    Department of Pathology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
    Background: Mast cell leukemia (MCL) is a very rare form of systemic mastocytosis (SM) and accounts for less than 0.5% of all mastocytosis. The diagnosis of MCL requires the presence of SM criteria, accompanied by leukemic infiltrating of atypical mast cells (MCs) in bone marrow (BM), peripheral blood as well as extracutaneous organs. Read More

    Mast Cells Signal their Importance in Health and Disease.
    J Allergy Clin Immunol 2018 Feb 15. Epub 2018 Feb 15.
    Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
    FcεRI is the primary receptor in mast cells that mediate allergic reactions by inducing rapid release of mediators, an adaptive immune response that may have evolved as a host defense against parasites and venoms. Yet, it is apparent that mast cells are also activated via non-IgE receptors whose significance is just beginning to be understood. This includes the Mas-related GPCRs (MRGPRX2) that may contribute to reactions to diverse antimicrobials and polybasic compounds, and ADGRE2, an adhesion GPCR which is activated by mechanical vibration and whose variants are associated with familial vibratory urticaria. Read More

    Effective management of severe cutaneous mastocytosis in young children with omalizumab (Xolair).
    Clin Exp Dermatol 2018 Feb 16. Epub 2018 Feb 16.
    Department of Pediatrics, Division of Allergy and Clinical Immunology and Dermatology, Department of Pediatrics, Montreal Children's Hospital, Montreal, Quebec, Canada.
    Omalizumab (Xolair) is an anti-IgE monoclonal antibody, which may benefit adults with systemic mastocytosis. We report effective treatment with omalizumab in two toddlers with severe diffuse cutaneous mastocytosis. Our cases offer preliminary evidence to support the safe use of omalizumab in paediatric patients with cutaneous mastocytosis. Read More

    The KIT and PDGFRA switch-control inhibitor DCC-2618 blocks growth and survival of multiple neoplastic cell types in advanced mastocytosis.
    Haematologica 2018 Feb 8. Epub 2018 Feb 8.
    Ludwig Boltzmann Cluster Oncology, Medical University of Vienna, Austria;
    Systemic mastocytosis is a complex disease defined by abnormal growth and accumulation of neoplastic mast cells in various organs. Most patients exhibit a D816V-mutated variant of KIT, which confers resistance against imatinib. Clinical problems in systemic mastocytosis arise from mediator-related symptoms and/or organ destruction caused by malignant expansion of neoplastic mast cells and/or other myeloid cells in various organ systems. Read More

    Systemic Mastocytosis: The Difficult Patient with a Rare Disease. Case Presentation and Brief Review.
    Hawaii J Med Public Health 2018 Feb;77(2):27-29
    Tripler Army Medical Center, Department of Medicine, Honolulu, HI (DHD).
    Mastocytosis is a rare process involving the activation and accumulation of clonal mast cells categorized by cutaneous or systemic involvement. Although the diagnosis of cutaneous disease can be straightforward and confirmed via skin biopsy, systemic disease mimics more common disease processes making diagnosis a challenge. The widespread physiologic distribution of mast cells causes a variety of symptoms with aberrant expression including fatigue, headache, depression, dyspnea, dyspepsia, nausea, and abdominal pain. Read More

    Mast cell-neural interactions contribute to pain and itch.
    Immunol Rev 2018 Mar;282(1):168-187
    Department of Dermatology, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.
    Mast cells are best recognized for their role in allergy and anaphylaxis, but increasing evidence supports their role in neurogenic inflammation leading to pain and itch. Mast cells act as a "power house" by releasing algogenic and pruritogenic mediators, which initiate a reciprocal communication with specific nociceptors on sensory nerve fibers. Consequently, nerve fibers release inflammatory and vasoactive neuropeptides, which in turn activate mast cells in a feedback mechanism, thus promoting a vicious cycle of mast cell and nociceptor activation leading to neurogenic inflammation and pain/pruritus. Read More

    The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion.
    Blood Cancer J 2018 Feb 9;8(2):15. Epub 2018 Feb 9.
    Mayo Clinic, Rochester, MN, USA.
    The new edition of the 2016 World Health Organization (WHO) classification system for tumors of the hematopoietic and lymphoid tissues was published in September 2017. Under the category of myeloproliferative neoplasms (MPNs), the revised document includes seven subcategories: chronic myeloid leukemia, chronic neutrophilic leukemia, polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET), chronic eosinophilic leukemia-not otherwise specified and MPN, unclassifiable (MPN-U); of note, mastocytosis is no longer classified under the MPN category. In the current review, we focus on the diagnostic criteria for JAK2/CALR/MPL mutation-related MPNs: PV, ET, and PMF. Read More

    Development and Validation of the Mastocytosis Activity Score: MAS.
    Allergy 2018 Feb 6. Epub 2018 Feb 6.
    Interdisciplinary Mastocytosis Center Charité, Department of Dermatology and Allergy Charité - Universitätsmedizin Berlin, Berlin, Germany.
    Background: Mastocytosis is a heterogeneous disease characterized by a clonal expansion of mast cells in various organs. The vast majority of patients suffer from signs and symptoms caused by mediator release from mast cells. Although the disease burden is high, there is currently no specific and validated instrument to measure and monitor signs and symptoms in patients with mastocytosis. Read More

    Variability of PD-L1 expression in mastocytosis.
    Blood Adv 2018 Feb;2(3):189-199
    Department of Pathology, University of New Mexico, Albuquerque, NM.
    Mastocytosis is a rare disease with heterogeneous clinical manifestations and few effective therapies. Programmed death-1 (PD-1) and its ligands (PD-L1 and PD-L2) protect tissues from immune-mediated damage and permit tumors to evade immune destruction. Therapeutic antibodies against PD-1 and PD-L1 are effective in the treatment of a variety of neoplasms. Read More

    [Systemic mastocytosis with progressive disease course].
    Orv Hetil 2018 Feb;159(5):192-196
    III. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Kútvölgyi út 4., 1125.
    Authors report on a case of a male patient of systemic mastocytosis that was associated with extensive cutaneous lesions. Chronic diarrhoea worsening his quality of life was well managed by the administration of antihistamines. The pleural fluid recurrence soon after drainage has been controlled by the administration of alpha interferon. Read More

    Comparison of lesional skin c-KIT mutations with clinical phenotype in patients with mastocytosis.
    Clin Exp Dermatol 2018 Jan 19. Epub 2018 Jan 19.
    Department of Dermatology, Rush University Medical Center, Chicago, IL, USA.
    Background: Activating c-KIT mutations cause abnormal mast cell growth and appear to play a role in mastocytosis. However, the correlation of c-KIT mutations with disease phenotypes is poorly characterized.

    Aim: To evaluate the correlation of c-KIT mutations with clinical presentations and laboratory findings. Read More

    Spotlight on midostaurin in the treatment of FLT3-mutated acute myeloid leukemia and systemic mastocytosis: design, development, and potential place in therapy.
    Onco Targets Ther 2018 29;11:175-182. Epub 2017 Dec 29.
    Department of Medical Oncology, Dana-Farber Cancer Institute.
    The Fms-like tyrosine kinase-3 (FLT3; fetal liver kinase-2; human stem cell tyrosine kinase-1; CD135) is a class III receptor tyrosine kinase that is normally involved in regulating the proliferation, differentiation, and survival of both hematopoietic cells and dendritic cells. Mutations leading it to be constitutively activated make it an oncogenic driver in ~30% of acute myeloid leukemia (AML) patients where it is associated with poor prognosis. The prevalence of oncogenic FLT3 and the dependency on its constitutively activated kinase activity for leukemia growth make this protein an attractive target for therapeutic intervention. Read More

    Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis.
    Genes Chromosomes Cancer 2018 Jan 17. Epub 2018 Jan 17.
    Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Heidelberg, Germany.
    The clinical behavior of systemic mastocytosis (SM) is strongly associated with activating mutations in KIT (D816V in >80% of cases), with the severity of the phenotype influenced by additional somatic mutations, for example, in SRSF2, ASXL1, or RUNX1. Complex molecular profiles are frequently associated with the presence of an associated hematologic neoplasm (AHN) and an unfavorable clinical outcome. However, little is known about the incidence and prognostic impact of cytogenetic aberrations. Read More

    Characterization of CD34hematopoietic cells in systemic mastocytosis: Potential role in disease dissemination.
    Allergy 2018 Jan 13. Epub 2018 Jan 13.
    Cancer Research Centre (IBMCC USAL-CSIC), Cytometry Service (NUCLEUS) and Department of Medicine, University of Salamanca, Salamanca, Spain.
    Background: Recent studies show that most systemic mastocytosis (SM) patients, including indolent SM (ISM) with (ISMs+) and without skin lesions (ISMs-), carry the KIT D816V mutation in PB leukocytes. We investigated the potential association between the degree of involvement of BM hematopoiesis by the KIT D816V mutation and the distribution of different maturation-associated compartments of bone marrow (BM) and peripheral blood (PB) CD34hematopoietic precursors (HPC) in ISM and identified the specific PB cell compartments that carry this mutation.

    Methods: The distribution of different maturation-associated subsets of BM and PB CD34HPC from 64 newly diagnosed (KIT-mutated) ISM patients and 14 healthy controls was analyzed by flow cytometry. Read More

    Factors increasing the risk for a severe reaction in anaphylaxis: An analysis of Data from The European Anaphylaxis Registry.
    Allergy 2018 Jan 10. Epub 2018 Jan 10.
    Department of Dermatology and Allergology, Charite - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin.
    Background: Preventive measures to decrease the frequency and intensity of anaphylactic events are essential to provide optimal care for allergic patients. Aggravating factors may trigger or increase the severity of anaphylaxis and therefore need to be recognized and avoided.

    Objective: To identify and prioritize factors associated with an increased risk of developing severe anaphylaxis. Read More

    Myelodysplasia and Mast Cell Leukemia with t(9;22).
    Case Rep Oncol Med 2017 26;2017:9249302. Epub 2017 Nov 26.
    Hematology and Oncology Service, San Antonio Military Medical Center, Fort Sam Houston, San Antonio, TX, USA.
    Introduction: Mast cell leukemia (MCL) is a rare variant of systemic mastocytosis. Most cases of mast cell leukemia do not have cytogenics performed. Furthermore, there is no consistent chromosomal abnormality identified in MCL. Read More

    Mastocytosis - pathogenesis, clinical manifestation and treatment.
    J Dtsch Dermatol Ges 2018 Jan;16(1):42-57
    Department of Dermatology, University Medical Center, Mainz, Germany.
    The term mastocytosis designates a group of rare disorders characterized by typical skin lesions, frequently associated episodes of anaphylaxis, and clinical symptoms related to the release of various mediators. Dermatologists/allergists are frequently the first to establish the diagnosis. The condition is based on clonal mast cell proliferation, usually in the skin or bone marrow and only rarely in the gastrointestinal tract or other tissues. Read More

    The pathogenesis of diclofenac induced immunoallergic hepatitis in a canine model of liver injury.
    Oncotarget 2017 Dec 23;8(64):107763-107824. Epub 2017 Sep 23.
    Centre for Pharmacology and Toxicology, Hannover Medical School, 30625 Hannover, Germany.
    Hypersensitivity to non-steroidal anti-inflammatory drugs is a common adverse drug reaction and may result in serious inflammatory reactions of the liver. To investigate mechanism of immunoallergic hepatitis beagle dogs were given 1 or 3 mg/kg/day (HD) oral diclofenac for 28 days. HD diclofenac treatment caused liver function test abnormalities, reduced haematocrit and haemoglobin but induced reticulocyte, WBC, platelet, neutrophil and eosinophil counts. Read More

    Extracellular vesicles or free circulating DNA: where to search for BRAF and cKIT mutations?
    Nanomedicine 2017 Dec 27. Epub 2017 Dec 27.
    Institute for Infection Prevention and Hospital Epidemiology; Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany. Electronic address:
    Clinical evidence in oncology argues for the advantages of performing molecular analysis of blood biomarkers to provide information about systemic changes and tumor heterogeneity. Whereas the diagnostic value of cell-free circulating DNA (fcDNA) has successfully been demonstrated in several studies, DNA enclosed in extracellular vesicles (EV) has only recently been described, and its potential diagnostic value is unclear. We established a protocol for separation of EV and fc fractions and tested for presence of mutant BRAFV600E mediating resistance to Vemurafenib and cKITD816V mediating resistance to Imatinib in blood of patients with melanoma and mastocytosis. Read More

    SOHO State-of-the-Art Update and Next Questions: MPN.
    Clin Lymphoma Myeloma Leuk 2018 Jan;18(1):1-12
    Department of Leukemia, University of Texas M.D. Anderson Cancer Center, Houston, TX.
    The discovery of the activating Janus kinase (JAK)2mutation in 2005 in most patients with the classic Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) spurred intense interest in research into these disorders, culminating in the identification of activating mutations in MPL in 2006 and indels in the gene encoding calreticulin (CALR) in 2013, thus providing additional mechanistic explanations for the universal activation of JAK-signal transducer and activator of transcription (JAK-STAT) observed in these conditions, and the success of the JAK1/2 inhibitor ruxolitinib, which first received regulatory approval in 2011. The field has continued to advance rapidly since then, and the past 2 years have witnessed important changes to the classification of MPN and diagnostic criteria for polycythemia vera (PV), novel insights into the mechanisms of bone marrow fibrosis in primary myelofibrosis (PMF), increasing appreciation of the biologic differences between essential thrombocythemia (ET), prefibrotic and overt PMF, and between primary and post-PV/ET myelofibrosis (MF). Additionally, the mechanisms through which mutant CALR drives JAK-STAT pathway activation and oncogenic transformation are now better understood. Read More

    Anaphylactic Reactions After Discontinuation of Hymenoptera Venom Immunotherapy: A Clonal Mast Cell Disorder Should Be Suspected.
    J Allergy Clin Immunol Pract 2017 Dec 16. Epub 2017 Dec 16.
    Allergy and Respiratory Diseases, IRCCS San Martino IST, University of Genoa, Genoa, Italy. Electronic address:
    Background: Up to 75% of patients with severe anaphylactic reactions after Hymenoptera sting are at risk of further severe reactions if re-stung. Venom immunotherapy (VIT) is highly effective in protecting individuals with ascertained Hymenoptera venom allergy (HVA) and previous severe reactions. After a 3- to 5-year VIT course, most patients remain protected after VIT discontinuation. Read More

    Drug-induced inhibition of phosphorylation of STAT5 overrides drug resistance in neoplastic mast cells.
    Leukemia 2017 Nov 29. Epub 2017 Nov 29.
    Ludwig Boltzmann Cluster Oncology, Medical University of Vienna, Vienna, Austria.
    Systemic mastocytosis (SM) is a mast cell (MC) neoplasm with complex pathology and a variable clinical course. In aggressive SM (ASM) and MC leukemia (MCL), responses to conventional drugs are poor and the prognosis is dismal. R763 is a multi-kinase inhibitor that blocks the activity of Aurora-kinase-A/B, ABL1, AKT and FLT3. Read More

    Mast Cell Burden in a Patient With Cutaneous Disease
    J Drugs Dermatol 2017 12;16(12):1285-1287
    Mastocytosis is a disease characterized by the abnormal clonal proliferation of mast cells in skin and/or extracutaneous organs, often relating to activating mutations of c-KIT. Histopathology special stains, such as Giemsa, Leder, and Toluidine blue, are key for the diagnosis of cutaneous mastocytosis (CM). In adults, skin lesions can be associated with systemic disease. Read More

    Association of prognostic features and treatment on survival time of dogs with systemic mastocytosis: A retrospective analysis of 40 dogs.
    Vet Comp Oncol 2017 Dec 14. Epub 2017 Dec 14.
    Oncology Services, Veterinary Medical Center of Long Island, West Islip, New York.
    Systemic mastocytosis is a rare phenomenon, with limited information regarding prognostic features and effective treatment of canine patients with this disease. The objective of this study is to determine the impact of certain features and treatments on dogs with systemic mastocytosis. The medical records of 40 dogs from 4 northeastern US veterinary hospitals, with evidence of systemic mast cell disease, were evaluated retrospectively. Read More

    Digital PCR: A Sensitive and Precise Method forD816V Quantification in Mastocytosis.
    Clin Chem 2017 Dec 13. Epub 2017 Dec 13.
    Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria;
    Background: The analytically sensitive detection ofD816V in blood and bone marrow is important for diagnosing systemic mastocytosis (SM). Additionally, precise quantification of theD816V variant allele fraction (VAF) is relevant clinically because it helps to predict multilineage involvement and prognosis in cases of advanced SM. Digital PCR (dPCR) is a promising new method for sensitive detection and accurate quantification of somatic mutations. Read More

    Rapid Responses to Avapritinib (BLU-285) in Mastocytosis.
    • Authors:
    Cancer Discov 2018 Feb 12;8(2):133. Epub 2017 Dec 12.
    In a phase I trial of avapritinib (formerly BLU-285), which targets D816V mutant KIT, for the treatment of advanced systemic mastocytosis, patients experienced rapid and durable disease control. The overall response rate was 72%, and 56% of patients experienced a complete or partial response. No patients discontinued treatment due to adverse events, most of which were mild to moderate in nature. Read More

    Systemic mastocytosis associates with cardiovascular events despite lower plasma lipid levels.
    Atherosclerosis 2018 Jan 22;268:152-156. Epub 2017 Dec 22.
    Department of Internal Medicine, Division Vascular Medicine, Erasmus MC, Rotterdam, The Netherlands. Electronic address:
    Background And Aims: Mast cells have been implicated in the development and progression of atherosclerosis in animal models and human autopsy studies. However, it is unknown whether long-term exposure to excess of mast cells is associated with cardiovascular disease (CVD) in humans. Our objective was to compare the prevalence of CVD and cardiovascular risk factors in patients with systemic mastocytosis (SM) and controls. Read More

    Multiple large osteolytic lesions in a patient with systemic mastocytosis: a challenging diagnosis.
    Clin Case Rep 2017 Dec 25;5(12):1988-1991. Epub 2017 Oct 25.
    Multidisciplinary Outpatients Clinic for MastocytosisAzienda Ospedaliera Universitaria Integrata di VeronaVeronaItaly.
    Patients with advanced variants of Systemic Mastocytosis may develop destructive bone lesions when massive mast cell (MC) infiltrates are present. Finding of large osteolyses in indolent systemic mastocytosis, typically characterized by low MC burden, should prompt investigations for an alternative explanation. Read More

    Risk of solid cancer in patients with mast cell activation syndrome: Results from Germany and USA.
    F1000Res 2017 26;6:1889. Epub 2017 Oct 26.
    Armonk Integrative Medicine, Armonk, NY, 10504, USA.
     It has been shown repeatedly that mast cells can promote or prevent cancer development and growth. If development and/or progression of a solid cancer is substantially influenced by mast cell activity, the frequencies of occurrence of solid cancers in patients with primary mast cells disorders would be expected to differ from the corresponding prevalence data in the general population. In fact, a recent study demonstrated that patients with systemic mastocytosis (i. Read More

    Investigation of mast cell toll-like receptor 3 in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis and Systemic Mastocytosis participants using the novel application of autoMACS magnetic separation and flow cytometry.
    Asian Pac J Allergy Immunol 2017 Dec 10. Epub 2017 Dec 10.
    School of Medical Science, Griffith University, Gold Coast, QLD, Australia.
    Background: Viral infections and hypersensitivities are commonly reported by Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME) patients. Mast Cells (MC) uniquely mediate type 1 hypersensitivities and resolve viral infections via toll-like receptor 3 (TLR3).

    Objective: To characterise and compare mast cell progenitors (MCPs) in CFS/ME participants with a known MC disorder, Systemic mastocytosis (SM), and secondly, to investigate the role of MC TLR3 in CFS/ME participants following Polyinosinic:polycytidylic acid (Poly I:C) stimulation. Read More

    Lower prevalence of vitamin D insufficiency in German patients with systemic mast cell activation syndrome compared with the general population.
    Z Gastroenterol 2017 Dec 6;55(12):1297-1306. Epub 2017 Dec 6.
    Institute of Human Genetics, University Hospital of Bonn, Germany.
     The common mastocytosis variant systemic mast cell activation syndrome (MCAS) may underlie at least a subset of patients with irritable bowel syndrome (IBS). A critical role of vitamin D (VD) in the stabilization of mast cells (MCs) with deficiency of VD resulting in MC activation has been demonstrated. If so, supplementation of VD would be a potential therapeutic approach in the treatment of those IBS patients. Read More

    Venom immunotherapy in patients with allergic reactions to insect stings.
    Expert Rev Clin Immunol 2018 Jan 8;14(1):53-59. Epub 2017 Dec 8.
    c Allergy Unit , Sant'Anna Hospital, ASST Lariana , Como , Italy.
    Introduction: Allergy to Hymenoptera (Apis mellifera, Vespula species, Polistes species, Vespa crabro) venom can be safely and effectively treated by venom immunotherapy (VIT), which in the 40 years since its introduction has been able to prevent reactions to stings, and to treatment as well, though systemic reactions, occasionally severe, are possible. Areas covered: We reviewed the recent literature on VIT by searching in PubMed for the terms 'venom immunotherapy' and 'Hymenoptera venom immunotherapy' to highlight the current status of VIT and the likely development in the coming years. Expert commentary: VIT, provided the correct choice of the venom and adequate venom preparations and maintenance doses are used, is a treatment of great value in preventing systemic reactions to Hymenoptera stings. Read More

    Ringed telangiectasias: an unusual presentation of telangiectasia macularis eruptiva perstans.
    BMJ Case Rep 2017 Nov 30;2017. Epub 2017 Nov 30.
    Department of Family and Community Medicine, Penn State Hershey Medical Center, Hershey, Pennsylvania, USA.
    Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis. While most cutaneous mastocytoses occur in children and are asymptomatic, TMEP occurs predominantly in adults and is associated with systemic manifestations, requiring medical management. TMEP is typically characterised by scattered red-brown macules on the trunk and extremities, but must be differentiated from other telangiectatic conditions such as scleroderma, hereditary haemorrhagic telangiectasia and telangiectasias secondary to cirrhosis. Read More

    Mast Cells as Drivers of Disease and Therapeutic Targets.
    Trends Immunol 2018 Feb 28;39(2):151-162. Epub 2017 Nov 28.
    Department of Dermatology and Allergy, Charité - Universitätsmedizin Berlin, Germany. Electronic address:
    Mast cells (MCs) contribute to the pathogenesis of a multitude of diseases that include MC-driven disorders such as urticaria, type I allergies, and mastocytosis as well as autoimmune and other inflammatory disorders and malignant tumors. Here, we review and discuss the results of studies that identified and characterized how MCs contribute to disease and, importantly, what strategies may be used to target MCs and MC effects therapeutically. Specifically, we discuss the most common approaches for investigating the role and relevance of MCs in various diseases. Read More

    Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.
    Eur J Med Genet 2018 Mar 23;61(3):157-160. Epub 2017 Nov 23.
    Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address:
    De novo monoallelic mutations in the GNB1 gene, encoding a β subunit of heterotrimeric G proteins, cause a newly recognized disorder with the typical clinical picture of severe developmental delay/intellectual disability, hypotonia and extrapyramidal symptoms. We describe another case of the condition with manifestations of cutaneous mastocytosis associated with a novel do novo mutation GNB1NM_001282539.1: c. Read More

    Vulvar Nodules: A Rare Presentation of Mastocytosis.
    J Pediatr Adolesc Gynecol 2017 Nov 21. Epub 2017 Nov 21.
    Department of Obstetrics and Gynecology, Division of Pediatric and Adolescent Gynecology, UT Southwestern Medical Center, Children's Health, Dallas, Texas.
    Background: Mastocytosis is a rare benign disorder characterized by the finding of mast cells in the skin and other organs, occurring in adult as well as pediatric age groups. The cutaneous form is the most common presentation in childhood and is rarely located on the vulva.

    Case: A 9-year-old prepubertal girl presented with bilateral vulvar nodules found incidentally by her pediatrician. Read More

    Identification of alpha-gal sensitivity in patients with a diagnosis of idiopathic anaphylaxis.
    Allergy 2017 Nov 21. Epub 2017 Nov 21.
    Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
    IgE antibodies (Ab) specific to galactose-α-1,3-galactose (alpha-gal) are responsible for a delayed form of anaphylaxis that occurs 3-6 hours after red meat ingestion. In a unique prospective study of seventy participants referred with a diagnosis of idiopathic anaphylaxis (IA), six (9%) were found to have IgE to alpha-gal. Upon institution of a diet free of red meat, all patients had no further episodes of anaphylaxis. Read More

    Pleomorphic mastocytoma in an adult.
    J Cutan Pathol 2018 Feb 11;45(2):176-179. Epub 2017 Dec 11.
    Department of Dermatology, Hospital Universitari Parc Taulí, Sabadell, Spain.
    Cutaneous mastocytoma (CM) is a localized variant of mastocytosis, characterized by an over-accumulation of mast cells in the skin, without extra-cutaneous organ involvement. It is defined as the presence of up to 3 isolated mast-cell skin lesions and commonly develops in newborns and children. We report the case of a 35-year-old healthy Caucasian woman presenting with a 4-year history of a pruritic brown plaque on her left breast. Read More

    Crenolanib is a type I tyrosine kinase inhibitor that inhibits mutantD816 isoforms prevalent in systemic mastocytosis and core binding factor leukemia.
    Oncotarget 2017 Oct 7;8(47):82897-82909. Epub 2017 Aug 7.
    University Hospital Tübingen, Department of Oncology, Hematology, Rheumatology, Clinical Immunology and Pulmology, Tübingen, Germany.
    Activating D816 mutations of the class III receptor tyrosine kinaseare associated with the majority of patients with systemic mastocytosis (SM), but also core binding factor (CBF) AML, makingmutations attractive therapeutic targets for the treatment of these cancers. Crenolanib is a potent and selective inhibitor of wild-type as well as mutant isoforms of the class III receptor tyrosine kinases FLT3 and PDGFRα/β. Notably, crenolanib inhibits constitutively active mutant-FLT3 isoforms resulting from amino acid substitutions of aspartic acid at codon 835, which is homologous to codon 816 in thegene - suggesting sensitivity against mutant-KIT D816 isoforms as well. Read More

    Histamine-releasing factor enhances food allergy.
    J Clin Invest 2017 Nov 13. Epub 2017 Nov 13.
    Division of Cell Biology, La Jolla Institute for Allergy and Immunology, La Jolla, California, USA.
    Food allergy occurs due to IgE- and mast cell-dependent intestinal inflammation. Previously, we showed that histamine-releasing factor (HRF), a multifunctional protein secreted during allergy, interacts with a subset of IgE molecules and that the HRF dimer activates mast cells in an HRF-reactive IgE-dependent manner. In this study, we investigated whether HRF plays any role in food allergy. Read More

    Mast Cell Disease Assessment by Flow Cytometric Analysis.
    Clin Lab Med 2017 Dec 10;37(4):869-878. Epub 2017 Oct 10.
    Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA. Electronic address:
    Mast cells are present at a low frequency in bone marrow, rendering high-sensitivity multiparametric flow cytometric analysis an ideal method to assess antigen expression on mast cells. This article discusses the normal antigen expression profile of mast cells, established criteria to identify neoplastic mast cells, and new immunophenotypic markers and approaches to identify the presence of neoplastic mast cells in cases of mastocytosis. Read More

    Copper Regulates Maturation and Expression of an MITF:Tryptase Axis in Mast Cells.
    J Immunol 2017 12 10;199(12):4132-4141. Epub 2017 Nov 10.
    Department of Medical Biochemistry and Microbiology, Uppsala University, 75123 Uppsala, Sweden;
    Copper has previously been implicated in the regulation of immune responses, but the impact of this metal on mast cells is poorly understood. In this article, we address this issue and show that copper starvation of mast cells causes increased granule maturation, as indicated by higher proteoglycan content, stronger metachromatic staining, and altered ultrastructure in comparison with nontreated cells, whereas copper overload has the opposite effects. In contrast, copper status did not impact storage of histamine in mast cells, nor did alterations in copper levels affect the ability of mast cells to degranulate in response to IgER cross-linking. Read More

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