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    Leveraging Siglec-8 endocytic mechanisms to kill human eosinophils and malignant mast cells.
    J Allergy Clin Immunol 2017 Jul 19. Epub 2017 Jul 19.
    Division of Allergy-Immunology, Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA; Division of Allergy and Clinical Immunology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:
    Background: Sialic acid-binding immunoglobulin-like lectin (Siglec)-8 is a cell-surface protein expressed selectively on human eosinophils, mast cells, and basophils, making it an ideal target for the treatment of diseases involving these cell types. However, the effective delivery of therapeutic agents to these cells requires an understanding of the dynamics of Siglec-8 surface expression.

    Objective: To determine whether Siglec-8 is endocytosed in human eosinophils and malignant mast cells, identify mechanisms underlying its endocytosis, and demonstrate whether a toxin can be targeted to Siglec-8-bearing cells to kill these cells. Read More

    Mastocytosis: from a Molecular Point of View.
    Clin Rev Allergy Immunol 2017 Jul 19. Epub 2017 Jul 19.
    Floridsdorf Allergy Center (FAZ), Vienna, Austria.
    Mast cells (MCs) are physiologically activated by binding of stem cell factor (SCF) to the extracellular domains of the Kit receptor. This binding increases the proliferation and prolongs the survival of normal mature MCs, as well as intensifies the release of mediators. In mastocytosis, somatic mutations of the coding Kit gene cause autocrine dysregulation and lead to constitutive KIT activation even in the absence of its ligand SCF. Read More

    Characterization of midostaurin as a dual inhibitor of FLT3 and SYK and potentiation of FLT3 inhibition against FLT3-ITD-driven leukemia harboring activated SYK kinase.
    Oncotarget 2017 Jul 6. Epub 2017 Jul 6.
    Department of Medical Oncology, Dana-Farber Cancer Institute, Massachusetts, USA.
    Oncogenic FLT3 kinase is a clinically validated target in acute myeloid leukemia (AML), and both multi-targeted and selective FLT3 inhibitors have been developed. Spleen tyrosine kinase (SYK) has been shown to be activated and increased in FLT3-ITD-positive AML patients, and has further been shown to be critical for transformation and maintenance of the leukemic clone in these patients. Further, over-expression of constitutively activated SYK causes resistance to highly selective FLT3 tyrosine kinase inhibitors (TKI). Read More

    House Dust Mite-induced Allergic Airway Disease is Independent of IgE and FcɛRIα.
    Am J Respir Cell Mol Biol 2017 Jul 12. Epub 2017 Jul 12.
    University of Cincinnati, 2514, Medicine, Cincinnati, Ohio, United States.
    IgE contributes to disease exacerbations but not to baseline airway hyperresponsiveness (AHR) in human asthma. In rodent allergic airway disease (AAD), mast cell and IgE dependence for the induction of AHR has only been observed when mice are immunized with a relatively weak allergen without adjuvant. To evaluate the role of IgE in murine AAD that is induced by a potent allergen, we inoculated BALB/c and FVB/N background wild-type, and IgE- or FcεRIα-deficient mice intratracheally with large or limiting doses of house dust mite extract (HDM) and evaluated AHR, pulmonary eosinophilia, goblet cell metaplasia, serum IgE, and lung mastocytosis. Read More

    Ultraviolet radiation and skin mast cells: Effects, mechanisms, and relevance for skin diseases.
    Exp Dermatol 2017 Jul 4. Epub 2017 Jul 4.
    Department of Dermatology and Allergy, Allergie-Centrum-Charité, Charité - Universitätsmedizin Berlin, Germany.
    Mast cells (MCs) are well-known as versatile effector cells in allergic reactions and several other immune responses. Skin MCs and cutaneous MC responses are subject to the effects of environmental factors including ultraviolet radiation (UVR). Numerous studies have assessed the effects of UVR on MCs, in vitro and in vivo. Read More

    Tyrosine Kinase Inhibitors in the Treatment of Eosinophilic Neoplasms and Systemic Mastocytosis.
    Hematol Oncol Clin North Am 2017 Aug;31(4):643-661
    Division of Hematology, Stanford Cancer Institute/Stanford University School of Medicine, 875 Blake Wilbur Drive, Room 2324, Stanford, CA 94305-5821, USA. Electronic address:
    The World Health Organization's semimolecular classification of eosinophilias emphasizes neoplasms driven by fusion tyrosine kinases. More than 80% of patients with systemic mastocytosis carry the KIT D816V mutation, the primary driver of disease pathogenesis. Genetic annotation of these diseases is critical and affords opportunities for targeted therapy. Read More

    SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis.
    Leukemia 2017 Jun 16. Epub 2017 Jun 16.
    Department of Experimental, Diagnostic and Specialty Medicine, Hematology/Oncology 'L. e A. Seràgnoli', University of Bologna, Bologna, Italy.
    The molecular basis of advanced systemic mastocytosis (SM) is not fully understood and despite novel therapies the prognosis remains dismal. Exome sequencing of an index-patient with mast cell leukemia (MCL) uncovered biallelic loss-of-function mutations in the SETD2 histone methyltransferase gene. Copy-neutral loss-of-heterozygosity at 3p21. Read More

    Omalizumab prevents anaphylaxis and improves symptoms in systemic mastocytosis; efficacy and safety observations.
    Allergy 2017 Jun 29. Epub 2017 Jun 29.
    Department of Dermatology and Allergy Centre, Odense Research Centre for Anaphylaxis (ORCA), Odense University Hospital, Odense, Denmark Odense University Hospital, Odense, Denmark.
    Background: Patients with systemic mastocytosis (SM) may suffer from mast cell (MC) mediator-related symptoms insufficiently controlled by conventional therapy. Omalizumab is an established treatment in other MC-driven diseases, but experiences in SM are limited.

    Objective: To assess the efficacy and safety of omalizumab in SM. Read More

    Acquired bilateral telangiectasia macularis eruptiva perstans: A unique clinical feature of photodamaging rather than a subtype of cutaneous mastocytosis.
    J Dermatol 2017 Jun 23. Epub 2017 Jun 23.
    Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
    Telangiectasia macularis eruptiva perstans (TMEP) is a rare subtype of cutaneous mastocytosis, characterized by telangiectatic tan to brown macules on the trunk and extremities. Although TMEP has been descried as an uncommon disease in the literature, we often encounter patients with TMEP lesions in the outpatient clinic. We aimed to assess the clinical and histopathological characteristics of acquired bilateral TMEP, and the pathophysiological mechanism of acquired bilateral TMEP among these patients. Read More

    Angioedema: Perioperative management.
    SAGE Open Med Case Rep 2017 8;5:2050313X17713912. Epub 2017 Jun 8.
    Department of Anesthesiology and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
    Objective: To describe the perioperative management of a patient with acquired angioedema (AAE).

    Methods: A 66-year-old Caucasian male presented from an outside hospital with a history of acquired angioedema and gastrointestinal stromal tumor-related intractable urticaria and mastocytosis. He was admitted for urgent laparoscopic partial gastrectomy, secondary to gastric outlet obstruction symptomatology. Read More

    Management of poorly controlled indolent systemic mastocytosis using narrowband UVB phototherapy.
    Cutis 2017 May;99(5):E30-E33
    Georgetown University Hospital/Washington Hospital Center, Washington, DC, USA.
    The mastocytoses comprise a group of proliferative stem cell disorders defined by the abnormal accumulation of mast cells (MCs) in the skin or other body tissues including the bone marrow, gastrointestinal tract, and liver. Systemic mastocytosis is defined by the presence of one major and one minor criterion or 3 minor criteria delineated by the World Health Organization (WHO). We present the case of a 57-year-old woman with a 10-year history of red-brown pruritic maculopapular lesions on the upper and lower extremities and trunk who was originally diagnosed with cutaneous mastocytosis. Read More

    A distinct biomolecular profile identifies monoclonal mast cell disorders in patients with idiopathic anaphylaxis.
    J Allergy Clin Immunol 2017 Jun 16. Epub 2017 Jun 16.
    Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
    Background: Clonal mast cell disorders are known to occur in a subset of patients with systemic reactions to Hymenoptera stings. This observation has prompted the question of whether clonal mast cell disorders also occur in patients with idiopathic anaphylaxis (IA).

    Objective: We sought to determine the prevalence of clonal mast cell disorders among patients with IA, criteria to identify those patients who require a bone marrow biopsy, and whether the pathogenesis of IA involves a hyperresponsive mast cell compartment. Read More

    Mastocytosis: A case series of 107 consecutive patients.
    Br J Dermatol 2017 Jun 16. Epub 2017 Jun 16.
    The University of Melbourne - Faculty of Medicine,Dentistry and Health Sciences, Melbourne, Victoria, Australia.
    Mastocytosis is classified by the World-Health-Organisation (WHO)(1) as cutaneous-mastocytosis (CM) and systemic-mastocytosis (SM). CM is subdivided into maculopapular (MPCM), diffuse-CM and mastocytomas. SM is subdivided into indolent (ISM), with-an-associated-haematologic-neoplasm (SM-AHN)(2) , aggressive (ASM) and mast-cell-leukemia (MCL). Read More

    Midostaurin: First Global Approval.
    Drugs 2017 Jul;77(11):1251-1259
    Springer, Private Bag 65901, Mairangi Bay, 0754, Auckland, New Zealand.
    Midostaurin (Rydapt(®)) is a multikinase inhibitor being developed by Novartis Pharmaceuticals. In April 2017, midostaurin was approved in the USA for the treatment of adult patients with newly diagnosed, FMS-like tyrosine kinase 3 (FLT3) mutation-positive acute myeloid leukaemia (AML) [in combination with standard cytarabine and daunorubicin induction, and cytarabine consolidation], or aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated haematological neoplasm (SM-AHN) or mast cell leukaemia (MCL) [collectively known as advanced SM]. The article summarizes the milestones in the development of midostaurin leading to this first global approval. Read More

    Midostaurin for the treatment of acute myeloid leukemia.
    Future Oncol 2017 Jun 14. Epub 2017 Jun 14.
    Department of Hematology, Mayo Clinic, Rochester, MN 55905, USA.
    Midostaurin is a multikinase tyrosine kinase inhibitor acting against targets known to be expressed in hematologic malignancies, especially acute myeloid leukemia. Midostaurin combined with chemotherapy followed by single-agent maintenance therapy elicited statistically significant and clinically meaningful improvement in overall survival versus placebo in patients with newly diagnosed FLT3-mutant acute myeloid leukemia. Although gastrointestinal events were more common with midostaurin, overall the drug was relatively well tolerated. Read More

    Mast cell leukemia (MCL): Clinico-pathologic and molecular features and survival outcome.
    Leuk Res 2017 Jun 1;59:105-109. Epub 2017 Jun 1.
    Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, United States. Electronic address:
    Mast cell leukemia (MCL) is a very rare subtype of systemic mastocytosis (SM). We have identified 13 such patients (5.9%) among 218 patients with SM seen at our institution between 1994 and 2016. Read More

    Activation of TRKA receptor elicits mastocytosis in mice and is involved in the development of resistance to KIT-targeted therapy.
    Oncotarget 2017 May 19. Epub 2017 May 19.
    Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany.
    The neurotrophins (NTs) play a key role in neuronal survival and maintenance. The TRK (tropomyosin-related kinase) tyrosine kinase receptors (TRKA, TRKB, TRKC) are high affinity receptors for NTs. There is increasing data demonstrating an important role of the TRK family in cancer initiation and progression. Read More

    KIT(D816V) Induces SRC-Mediated Tyrosine Phosphorylation of MITF and Altered Transcription Program in Melanoma.
    Mol Cancer Res 2017 Jun 5. Epub 2017 Jun 5.
    Division of Translational Cancer Research, Lund Stem Cell Center, Lund University, Medicon Village and Department of Oncology, Skåne University Hospital, Lund, Sweden.
    The oncogenic D816V mutation of the KIT receptor is well characterized in systemic mastocytosis and acute myeloid leukemia. Although KIT(D816V) has been found in melanoma, its function and involvement in this malignancy is not understood. Here we show that KIT(D816V) induces tyrosine phosphorylation of MITF through a triple protein complex formation between KIT, MITF, and SRC family kinases. Read More

    Acute Myeloid Leukemia With Inv(16)(p13q22) Associated With Hidden Systemic Mastocytosis: Case Report and Review of Literature.
    Clin Med Insights Blood Disord 2017 30;10:1179545X17700858. Epub 2017 Mar 30.
    Department of Hematology/Oncology, National Center for Cancer Care and Research, Hamad Medical Corporation, Doha, Qatar.
    Systemic mastocytosis (SM) is a condition associated with clonal neoplastic proliferation of mast cells. In up to 40% of systemic mastocytosis cases, an associated clonal hematological disease of non-mast cell lineage, such as acute myeloid leukemia (AML), is diagnosed before, simultaneously with, or after the diagnosis of SM. Herein, we report a case of a 30-year-old man diagnosed with AML with inv(16) (p13;q22) CBFB:MYH11. Read More

    Improved efficacy of allergen-specific immunotherapy by JAK inhibition in a murine model of allergic asthma.
    PLoS One 2017 1;12(6):e0178563. Epub 2017 Jun 1.
    Center of Allergy and Environment (ZAUM), Technical University of Munich and Helmholtz Center Munich, Member of the German Center for Lung research (DZL), Munich, Germany.
    Background: Allergen-specific immunotherapy (AIT) is the only curative treatment for type-1 allergies, but sometimes shows limited therapeutic response as well as local and systemic side effects. Limited control of local inflammation and patient symptoms hampers its widespread use in severe allergic asthma.

    Objective: Our aim was to evaluate whether AIT is more effective in suppression of local inflammation if performed under the umbrella of short-term non-specific immunomodulation using a small molecule inhibitor of JAK pathways. Read More

    Pharmacotherapy of mast cell disorders.
    Curr Opin Allergy Clin Immunol 2017 Aug;17(4):295-303
    aDepartment of Respiratory Medicine and Allergy, Karolinska University Hospital, Huddinge bDepartment of Medicine Solna, Immunology and Allergy Unit, Karolinska Institutet and Karolinska University Hospital cMastocytosis Centre Karolinska, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden dDepartment of Internal Medicine, Division of Allergy and Clinical Immunology, University of Michigan, Ann Arbor, Michigan, USA.
    Purpose Of Review: Mast cell disorders (MCDs) comprise mastocytosis and disorders referred to as mast cell activation syndrome and are caused by abnormal accumulation and/or activation of mast cells in tissues. Clinical signs and symptoms are protean; therefore, finding suitable treatment options for individual patients entails a challenge for clinicians. The purpose of this manuscript is to review the literature on the available therapeutic interventions in patients with MCD. Read More

    Multifactorial Modulation of Food-Induced Anaphylaxis.
    Front Immunol 2017 16;8:552. Epub 2017 May 16.
    Dpto. Bioquímica y Biología Molecular I, Universidad Complutense de Madrid, Madrid, Spain.
    Prevalence of food-induced anaphylaxis increases progressively and occurs in an unpredictable manner, seriously affecting the quality of life of patients. Intrinsic factors including age, physiological, and genetic features of the patient as well as extrinsic factors such as the intake of drugs and exposure to environmental agents modulate this disorder. It has been proven that diseases, such as mastocytosis, defects in HLA, or filaggrin genes, increase the risk of severe allergic episodes. Read More

    Patterns of anaphylaxis after diagnostic workup: A follow-up study of 226 patients with suspected anaphylaxis.
    Allergy 2017 May 19. Epub 2017 May 19.
    Department of Dermatology and Allergy Center, Odense Research Center for Anaphylaxis (ORCA), Odense University Hospital, Odense, Denmark.
    Background: Most published studies on anaphylaxis are retrospective or register based. Data on subsequent diagnostic workup are sparse. We aimed to characterize patients seen with suspected anaphylaxis at the emergency care setting (ECS), after subsequent diagnostic workup at our Allergy Center (AC). Read More

    R634W KIT Mutation in an Adult With Systemic Mastocytosis.
    Lab Med 2017 May 18. Epub 2017 May 18.
    Departments of Pathology and Laboratory Medicine, Yale University School of Medicine, Pathology and Laboratory Medicine, VA Connecticut Healthcare System, West Haven, CT.
    Mastocytosis is a clonal neoplasm with the potential to affect various organs within the body. It can range in clinical severity from benign to extremely aggressive. Mastocytosis can be separated into cutaneous, systemic, and leukemic forms, as well as mast-cell sarcoma and extracutaneous mastocytoma. Read More

    Morphologic Confounders and CD19 Negativity in a Case of Hairy Cell Leukemia.
    Mediterr J Hematol Infect Dis 2017 1;9(1):e2017033. Epub 2017 May 1.
    Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh - 160012, India.
    Objectives: We report a case of hairy cell leukemia (HCL) initially misdiagnosed as plasma cell dyscrasia due to various clinical, morphological and immunophenotypic confounders.

    Methods And Results: In a patient diagnosed of marrow plasmacytosis and serum monoclonal protein elsewhere and referred to our hospital, morphological evaluation of bone marrow aspirate smears and trephine biopsy, immunophenotyping, and molecular testing (BRAFV600E mutation) were done. Clinically, the patient was asymptomatic; bone marrow revealed plasmacytosis, mastocytosis, and lymphocytosis with a few "hairy" cells. Read More

    Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.
    J Clin Immunol 2017 Jul 15;37(5):445-451. Epub 2017 May 15.
    Translational Autoinflammatory Diseases Studies, NIAID, NIH, Bethesda, MD, USA.
    Purpose: Deficiency of interleukin-1 receptor antagonist (DIRA) is a rare life-threatening autoinflammatory disease caused by autosomal recessive mutations in IL1RN. DIRA presents clinically with early onset generalized pustulosis, multifocal osteomyelitis, and elevation of acute phase reactants. We evaluated and treated an antibiotic-unresponsive patient with presumed DIRA with recombinant IL-1Ra (anakinra). Read More

    Differences in the imaging features and distribution of non-indolent and indolent mastocytosis: a single institution experience of 29 patients.
    Clin Imaging 2017 Jul - Aug;44:111-116. Epub 2017 May 6.
    Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, United States; Department of Imaging, Dana Farber Cancer Institute, Harvard Medical School, 450 Brookline Avenue, Boston, MA 02215, United States.
    Purpose: Compare imaging features of indolent and non-indolent mastocytosis.

    Methods: For 29 patients, imaging features, imaging indications, and distribution of indolent and non-indolent mastocytosis subtypes were analyzed.

    Results: 16/29 (55%) patients had three distinct patterns of osseous abnormality, not significantly differing between cohorts. Read More

    Fatal Anaphylaxis to Yellow Jacket Stings in Mastocytosis: Options for Identification and Treatment of At-Risk Patients.
    J Allergy Clin Immunol Pract 2017 May 10. Epub 2017 May 10.
    Department of Allergology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; GRIAC Research Institute, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
    Background: Patients with indolent systemic mastocytosis (ISM) are at risk for severe anaphylactic reactions to yellow jacket (YJ) stings while demonstration of sensitization can be challenging because specific IgE (sIgE) levels are regularly below 0.35 kUA/L. The implication of missing YJ allergy is illustrated by a case of fatal anaphylaxis. Read More

    Routine abdominal ultrasonography has limited value in the care for patients with indolent systemic mastocytosis.
    Hematology 2017 May 10:1-4. Epub 2017 May 10.
    a Department of Internal Medicine, Section of Clinical Immunology , Erasmus University Medical Centre , Rotterdam , Netherlands.
    Objectives: Systemic mastocytosis (SM) is a myeloproliferative disease characterized by the accumulation of aberrant mast cells. Since advanced subtypes of SM can lead to organ dysfunction and shortened survival, timely recognition of progressive disease is important for the adequate treatment of SM patients.

    Methods: Here, we report the results of our cohort study on the value of routine abdominal ultrasonography for the detection of progression of indolent systemic mastocytosis (ISM). Read More

    Tolerability and benefit of a tetramethoxyluteolin-containing skin lotion.
    Int J Immunopathol Pharmacol 2017 Jun 8;30(2):146-151. Epub 2017 May 8.
    1 Molecular Immunopharmacology and Drug Discovery Laboratory, Department of Integrative Physiology and Pathobiology, Tufts University School of Medicine, Boston, MA, USA.
    As many as 40% of people have sensitive skin and at least half of them suffer from pruritus associated with allergies, atopic dermatitis (AD), chronic urticaria (CU), cutaneous mastocytosis (CM), and psoriasis. Unfortunately, the available topical formulations contain antihistamines that are often not as effective as those containing corticosteroids. Certain natural flavonoids have anti-inflammatory actions. Read More

    [Uncommon dermatologic disorders triggered by radiation therapy of breast cancer: A case-series].
    Cancer Radiother 2017 May 29;21(3):216-221. Epub 2017 Apr 29.
    Institut universitaire du cancer Toulouse Oncopole, 1, avenue Irène-Joliot-Curie, 31059 Toulouse cedex 9, France; Oncodermatologie, institut Claudius-Regaud, 1, avenue Irène-Joliot-Curie, 31059 Toulouse cedex 9, France. Electronic address:
    Radiotherapy's main skin toxicities are now well-separated, acute (acute radiation dermatitis) or chronic complications (chronic radiation dermatitis, induced cutaneous carcinoma, aesthetic sequelae). Exceptionally, radiotherapy may induce, by isomorphic reaction or Koebner's phenomenon, some specific dermatosis. In this article, we report five new observations of these unusual complications of radiation therapy, occurring in very variable time after breast irradiation and remaining strictly localized in the irradiated field (cutaneous mastocytosis, Sweet syndrome, lichen planus, vitiligo). Read More

    Killer cell immunoglobulin-like receptor 2DL4 is expressed in and suppresses the cell growth of Langerhans cell histiocytosis.
    Oncotarget 2017 Jun;8(23):36964-36972
    Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan.
    Killer cell immunoglobulin-like receptor (KIR) 2DL4 (CD158d) is a receptor for human leukocyte antigen-G. The function of KIR2DL4 has been reported in human natural killer cell lymphoma and mastocytosis, but not in Langerhans cell histiocytosis (LCH). Herein, we examined the expression and function of KIR2DL4 in LCHs. Read More

    Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome.
    Allergy Asthma Clin Immunol 2017 24;13:21. Epub 2017 Apr 24.
    Consulta Multidisciplinar de Linfomas Cutâneos e Mastocitoses (CMLC), Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, Portugal.
    Background: Mastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absence of skin lesions, ISMs(-), is a specific subtype indolent SM (ISM), and this clonal MC activation disorder represents a significant fraction of all MC activation syndromes. Read More

    Continuous diphenhydramine infusion and imatinib for KIT-D816V-negative mast cell activation syndrome: a case report.
    J Med Case Rep 2017 Apr 24;11(1):119. Epub 2017 Apr 24.
    Rosenfeld Cancer Center, Abington Jefferson Health, 1200 Old York Road, Abington, PA, 19001, USA.
    Background: We present the first full case report of the treatment of mast cell activation syndrome with continuous diphenhydramine infusion, which resulted in the improvement of anaphylactic reactions and a decrease in hospital readmission. Furthermore, the patient received imatinib in the absence of the KIT-D816V mutation, which led to further improvement of quality of life. Currently, we are trying to wean this patient off diphenhydramine; if successful, this attempt will represent the first reported case. Read More

    Prospective evaluation of the diagnostic value of sensitive KIT D816V mutation analysis of blood in adults with suspected systemic mastocytosis.
    Allergy 2017 Apr 22. Epub 2017 Apr 22.
    Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
    Background: Sensitive KIT D816V mutation analysis of blood has been proposed to guide bone marrow (BM) investigation in suspected systemic mastocytosis (SM). The aim of this prospective study was for the first time to compare the D816V status of the "screening blood sample" used to guide BM biopsy in suspected SM to the outcome of the subsequent BM investigation.

    Methods: Fifty-eight adult patients with suspected SM were included. Read More

    Response and progression on midostaurin in advanced systemic mastocytosis: KIT D816V and other molecular markers.
    Blood 2017 Jul 19;130(2):137-145. Epub 2017 Apr 19.
    Department of Hematology and Oncology, Mannheim University Medical Center, Mannheim, Germany.
    In advanced systemic mastocytosis (advSM), disease evolution is often triggered by KIT mutations (D816V in >80% of cases) and by additional mutations (eg, in SRSF2, ASXL1, and/or RUNX1 [S/A/R(pos) in >60% of cases]). In a recently reported phase 2 study, midostaurin, a multikinase/KIT inhibitor, demonstrated an overall response rate (ORR) of 60% in advSM but biomarkers predictive of response are lacking. We evaluated the impact of molecular markers at baseline and during follow-up in 38 midostaurin-treated advSM patients. Read More

    A retrospective epidemiological study of skin diseases among pediatric population attending a tertiary dermatology referral center in Northern Greece.
    Clin Cosmet Investig Dermatol 2017 3;10:99-104. Epub 2017 Apr 3.
    First Department of Dermatology, Aristotle University Medical School, Thessaloniki, Greece.
    Background: The incidence of skin diseases in children is influenced by hereditary, social, and environmental factors. The objective of this study was to determine the incidence of pediatric dermatoses at a University Hospital in Northern Greece.

    Patients And Methods: We reviewed epidemiologic data of 940 patients, aged 0-18 years, who were referred to the outpatient clinic of a University Hospital between January 2013 and December 2015. Read More

    The IL-31/IL-31 receptor axis: general features and role in tumor microenvironment.
    J Leukoc Biol 2017 Apr 13. Epub 2017 Apr 13.
    Immunology Area, Ospedale Pediatrico Bambino Gesù, Roma, Italy
    IL-31 is a recently identified cytokine with a well-defined role in the pathogenesis of pruritus. IL-31, whose production is induced by IL-4 and IL-33, binds a heterodimeric receptor (R) composed of the exclusive IL-31RA chain and the shared oncostatin M R. Signaling through the IL-31R involves the MAPK, PI3K/AKT and Jak/STAT pathways. Read More

    Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.
    Immunogenetics 2017 Jun 6;69(6):359-369. Epub 2017 Apr 6.
    Institute of Human Genetics, University Hospital of Bonn, D-53127, Bonn, Germany.
    Mast cell activation syndrome (MCAS) and systemic mastocytosis (SM) are two clinical systemic mast cell activation disease variants. Few studies to date have investigated the genetic basis of MCAS. The present study had two aims. Read More

    Constitutively active ABL family kinases, TEL/ABL and TEL/ARG, harbor distinct leukemogenic activities in vivo.
    Leukemia 2017 May 5. Epub 2017 May 5.
    Department of Molecular Diagnostics and Therapeutics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.
    ABL (ABL1) and ARG (ABL2) are highly homologous to each other in overall domain structure and amino-acid sequence, with the exception of their C termini. As with ABL, translocations that fuse ARG to ETV6/TEL have been identified in patients with leukemia. To assess the in vivo leukemogenic activity of constitutively active ABL and ARG, we generated a bone marrow (BM) transplantation model using the chimeric forms TEL/ABL and TEL/ARG, which have comparable kinase activities. Read More

    Successful targeted treatment of mast cell activation syndrome with tofacitinib.
    Eur J Haematol 2017 Aug 3;99(2):190-193. Epub 2017 May 3.
    Inflammatory Bowel and Celiac Disease Program, University of Florida, Gainesville, FL, USA.
    Mast cell (MC) activation syndrome (MCAS) is a collection of illnesses of inappropriate MC activation with little to no neoplastic MC proliferation, distinguishing it from mastocytosis. MCAS presents as chronic, generally inflammatory multisystem polymorbidity likely driven in most by heterogeneous patterns of constitutively activating mutations in MC regulatory elements, posing challenges for identifying optimal mutation-targeted treatment in individual patients. Targeting commonly affected downstream effectors may yield clinical benefit independent of upstream mutational profile. Read More

    In-Utero Presentation of Aggressive Systemic Mastocytosis in a Neonate.
    Br J Dermatol 2017 Mar 30. Epub 2017 Mar 30.
    Department of Dermatology, State University of New York Downstate Medical Center, Brooklyn, NY.
    Mastocytosis is a clinically heterogenous disease characterized by mast cell hyperplasia in skin, bone marrow, and/or visceral organs. Cutaneous mastocytosis (CM) is more frequently observed in children, while indolent systemic mastocytosis (ISM) is more commonly observed in adults. Aggressive systemic presentation, particularly, of the neonate, is exceptionally rare. Read More

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