7,024 results match your criteria Mastocytosis Systemic
J Natl Compr Canc Netw 2018 Dec;16(12):1500-1537
Mastocytosis is a group of heterogeneous disorders resulting from the clonal proliferation of abnormal mast cells and their accumulation in the skin and/or in various extracutaneous organs. Systemic mastocytosis is the most common form of mastocytosis diagnosed in adults, characterized by mast cell infiltration of one or more extracutaneous organs (with or without skin involvement). The identification of KIT D816V mutation and the emergence of novel targeted therapies have significantly improved the diagnosis and treatment of systemic mastocytosis. Read More
Blood 2018 Dec;132(24):2613
Royal Jubilee Hospital.
J Allergy Clin Immunol 2018 Dec 10. Epub 2018 Dec 10.
Human Eosinophil Section, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, MD. Electronic address:
Background: Sialic acid-binding immunoglobulin-like lectin (Siglec)-8 is selectively expressed on eosinophils, mast cells and basophils, and, when engaged on eosinophils, can cause cell death.
Objective: To characterize surface and soluble Siglec-8 levels in normal (ND) and eosinophilic (EO) subjects and assess the efficacy of anti-Siglec-8 antibodies in inducing eosinophil cell death in vitro.
Methods: Eosinophil expression of Siglec-8 was assessed using flow cytometry and quantitative PCR. Read More
Am J Hematol 2018 Dec 8. Epub 2018 Dec 8.
Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Overview: Systemic mastocytosis (SM) results from a clonal proliferation of abnormal mast cells (MC) in extra-cutaneous organs.
Diagnosis: The major criterion is presence of multifocal clusters of abnormal MC in the bone marrow. Minor diagnostic criteria include elevated serum tryptase level, abnormal MC CD25 expression, and presence of KITD816V mutation. Read More
J Investig Allergol Clin Immunol 2018 Dec;28(6):365-378
Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast), Hospital Virgen del Valle, Toledo, Spain.
Mast cells (MCs) are a key structural and functional component of both the innate and the adaptive immune systems. They are involved in many different processes, but play a major role in the response to infections and in inflammatory reactions. In addition, MCs are the main effector cells in allergy. Read More
J Allergy Clin Immunol 2018 Dec 6. Epub 2018 Dec 6.
Department of Dermatology and Allergy Biederstein, Technische Universität München, Munich, Germany.
Providers caring for patients with mastocytosis are tasked with the decision to consider therapeutic options. This may come with some trepidation since the information available in the public domain lists numerous mast cell activators based on data that does not discriminate between primates, rodents and mast cell lines, does not consider dosage and does not take into account previous exposure and resultant clinical findings. This being said, there is support in the literature for an enhanced mast cell response in some patients with mastocytosis and where there is higher incidence of adverse reactions associated with certain antigens such as venoms as well as drugs. Read More
Biofactors 2018 Dec 6. Epub 2018 Dec 6.
Laboratory of Molecular Immunopharmacology and Drug Discovery, Department of Immunology, Tufts University School of Medicine, Boston, MA, USA.
Glycosaminoglycans (GAGs) are linear, highly negatively charged carbohydrate chains present in connective tissues. Chondroitin sulfate (CS) and heparin (Hep) are also found in the numerous secretory granules of mast cells (MC), tissue immune cells involved in allergic and inflammatory reactions. CS and Hep may inhibit secretion of histamine from rat connective tissue MC, but their effect on human MC remains unknown. Read More
Hematology Am Soc Hematol Educ Program 2018 Nov;2018(1):127-136
Divisions of Hematology and.
Mastocytosis is a rare disease characterized by KIT-driven expansion and accumulation of neoplastic mast cells in various tissues. Although mediator symptoms related to mast cell activation can impose a symptom burden in cutaneous disease and across the spectrum of systemic mastocytosis subtypes, the presence of an associated hematologic neoplasm and/or organ damage denotes advanced disease and the potential for increased morbidity and mortality. In addition to the revised 2016 World Health Organization classification of mastocytosis, a new diagnostic and treatment toolkit, tethered to enhanced molecular characterization and monitoring, is poised to transform the management of patients with advanced systemic mastocytosis (advSM). Read More
Br J Haematol 2018 Dec;183(5):775-782
Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
The use of allele-specific quantitative polymerase chain reaction to identify KIT D816V in the peripheral blood of adults with mastocytosis has been reported to have value in the diagnosis, assessment of disease burden and management of this disease. To examine the value of this assay in children with cutaneous manifestations of mastocytosis, we assessed data on 65 patients with all variants of paediatric-onset mastocytosis, including those known to have systemic disease, to correlate KIT mutation status with clinical findings, serum tryptase levels and bone marrow histopathology. We found that KIT D816V was not identified in the peripheral blood of children known to have only cutaneous disease (specificity 100%) but was found in those known to have both cutaneous and systemic/probable systemic disease (sensitivity of 85·2%). Read More
J Surg Case Rep 2018 Nov 23;2018(11):rjy317. Epub 2018 Nov 23.
Department of Breast & Endocrine Surgery, Nepean Hospital, Penrith, NSW 2747, Australia.
Ionizing radiation therapy is a common adjuvant therapy for individuals undergoing surgery for breast cancer. There are many well-recognized acute and chronic cutaneous reactions that can vary in severity, course and duration. We present a rare cutaneous manifestation of systemic mastocystosis, in a 59-year-old female who underwent adjuvant radiotherapy following local excision of ductal carcinoma in situ. Read More
An Bras Dermatol 2018 Nov/Dec;93(6):940-941
Department of Dermatology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.
Vet Dermatol 2018 Nov 26. Epub 2018 Nov 26.
Department of Small Animal Medicine and Surgery, College of Veterinary Medicine, University of Georgia, 2200 College Station Road, Athens, GA, 30602, USA.
Background: Cutaneous mastocytosis (CM) is a rare disease of dogs characterized by rash, pruritus and proliferation of mast cells in the skin. Oral H1 antihistamines are recommended as the treatment to control pruritus.
Hypothesis/objective: To describe the effective treatment of pruritus associated with CM with lokivetmab in one dog. Read More
Int J Dermatol 2018 Nov 19. Epub 2018 Nov 19.
Department of Dermatology, Sakai City Medical Center, Osaka, Japan.
Allergy 2018 Nov 12. Epub 2018 Nov 12.
Department of Clinical Pharmacology, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Background: Histaminolytic activity mediated by diamine oxidase (DAO) is present in plasma after induction of severe anaphylaxis in rats, guinea pigs and rabbits. Heparin released during mast cell degranulation in the gastrointestinal tract might liberate DAO from heparin-sensitive storage sites. DAO release during anaphylaxis has not been demonstrated in humans. Read More
J Allergy Clin Immunol Pract 2018 Nov 8. Epub 2018 Nov 8.
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria; Ludwig Boltzmann Institute for Hematology & Oncology, Medical University of Vienna, Vienna, Austria.
Mastocytosis is a unique hematologic neoplasm with complex biology and pathology and a variable clinical course. The disease can essentially be divided into cutaneous mastocytosis (CM) and systemic mastocytosis (SM). In adults, SM is diagnosed in most cases and manifests as either indolent or advanced disease. Read More
Blood Adv 2018 Nov;2(21):2964-2972
Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN.
Systemic mastocytosis (SM) is a clinically heterogeneous disease with prognosis chiefly assigned based on World Health Organization (WHO) morphologic subclassification. We assessed the feasibility of developing contemporary risk models for SM based on clinical and integrated clinical-genetics information. Diagnosis of SM was per WHO criteria, and karyotype and next-generation sequencing data were available in a subset of the total 580 patients (median age, 55 years; range, 18-88 years) seen at the Mayo Clinic between 1968 and 2015. Read More
Allergy 2018 Nov 3. Epub 2018 Nov 3.
Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, UK.
Mast cells are typically linked to immediate hypersensitivity and anaphylaxis. This review looks beyond this narrow role, focusing on how these cells have evolved and diversified via natural selection promoting serine protease gene duplication, augmenting their innate host defense function against helminths and snake envenomation. Plasticity of mast cell genes has come at a price. Read More
Ann Allergy Asthma Immunol 2018 Nov;121(5):515-516
Drug Hypersensitivity and Desensitization Center, Mastocytosis Center, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:
Blood Adv 2018 Nov;2(21):2814-2828
Cancer Research Center (IBMCC, USAL-CSIC), Department of Medicine and Cytometry Service (NUCLEUS), CIBERONC, University of Salamanca, Salamanca, Spain.
Systemic mastocytosis (SM) is a highly heterogeneous disease with indolent and aggressive forms, with the mechanisms leading to malignant transformation still remaining to be elucidated. Here, we investigated the presence and frequency of genetic variants in 34 SM patients with multilineal D816V mutations. Initial screening was performed by targeted sequencing of 410 genes in DNA extracted from purified bone marrow cells and hair from 12 patients with nonadvanced SM and 8 patients with advanced SM, followed by whole-genome sequencing (WGS) in 4 cases. Read More
BJR Case Rep 2018 16;4(2):20170091. Epub 2017 Dec 16.
Department of Radiology, James Cook University Hospital, Middlesbrough, UK.
In patients with breast cancer, the appearance of sclerotic bone lesions on imaging should raise the suspicion of skeletal metastases. However, before making the diagnosis it is important to consider the clinical context and remember that there are conditions that can mimic bone metastasis. We present two cases of mimics of bone metastasis: systemic mastocytosis and osteopoikilosis. Read More
Proc Natl Acad Sci U S A 2018 11 23;115(45):E10692-E10701. Epub 2018 Oct 23.
Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.
Extracellular vesicles (EVs) have been implicated in the development and progression of hematological malignancies. We thus examined serum samples from patients with systemic mastocytosis (SM) and found EVs with a mast cell signature including the presence of tryptase, FcεRI, MRGX2, and KIT. The concentration of these EVs correlated with parameters of disease including levels of serum tryptase, IL-6, and alkaline phosphatase and physical findings including hepatosplenomegaly. Read More
Lakartidningen 2018 Oct 22;115. Epub 2018 Oct 22.
Karolinska Institutet Department of Medicine Solna - Stockholm, Sweden Karolinska Institutet Department of Medicine Solna - Stockholm, Sweden.
Mastocytosis is a rare and multifaceted disease group characterized by mast cell accumulation in the skin and/or internal organs. In its most common form solitary or widespread, often itchy, red-brown skin lesions appear in childhood or during adulthood (cutaneous mastocytosis). The skin lesions are not always easy to recognize by medical professionals; hence, a correct diagnosis is often delayed. Read More
Int J Immunopathol Pharmacol 2018 Jan-Dec;32:2058738418803252
2 Department of Clinical Science, Faculty of Medicine, University of Bergen, Bergen, Norway.
Chronic fatigue is a common phenomenon in inflammatory and autoimmune conditions, in cancer, and in neurodegenerative diseases. Although pain and psychological factors influence fatigue, there is an increasing understanding that there is a genetic basis, and that activation of the innate immune system is an essential generator of fatigue. Mast cells are important actors in innate immunity and serve specialized defense responses against parasites and other pathogens. Read More
Br J Dermatol 2018 Oct;179(4):e165
Department of Clinical-Surgical, Diagnostic and Pediatric Science, Institute of Dermatology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
Blood Res 2018 Sep 28;53(3):251-254. Epub 2018 Sep 28.
Department of Hematology, Sir Ganga Ram Hospital, New Delhi, India.
Clin Mol Allergy 2018 1;16:21. Epub 2018 Oct 1.
1Allergy and Clinical Immunology Unit, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico "G.Martino" Via Consolare Valeria 1, 98124 Messina, Italy.
Background: Kounis syndrome (KS) has been described as the coincidental occurrence of acute coronary syndromes during an allergic reaction with cardiac anaphylaxis. It is caused by inflammatory mediators released after exposure to drugs, food, environmental and other triggers. Oxidative stress occurring in various inflammatory disorders causes molecular damage with the production of advanced oxidation products (AOPPs) and advanced glycation end products (AGEs). Read More
Int J Mol Sci 2018 Oct 9;19(10). Epub 2018 Oct 9.
Department of Medicine, Huddinge, Karolinska Institutet, and Hematology Center, and Karolinska University Hospital, S-141 86 Stockholm, Sweden.
Myeloid hematological malignancies are clonal bone marrow neoplasms, comprising of acute myeloid leukemia (AML), the myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML), the myeloproliferative neoplasms (MPN) and systemic mastocytosis (SM). The field of epigenetic regulation of normal and malignant hematopoiesis is rapidly growing. In recent years, heterozygous somatic mutations in genes encoding epigenetic regulators have been found in all subtypes of myeloid malignancies, supporting the rationale for treatment with epigenetic modifiers. Read More
Am J Hematol 2018 Oct 3. Epub 2018 Oct 3.
Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota.
J Cardiothorac Vasc Anesth 2018 Sep 1. Epub 2018 Sep 1.
Cardiac Surgery Department, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá, Colombia.
Gastroenterol Nurs 2018 Sep/Oct;41(5):380-387
Cathy S. Birn, MA, RN, CGRN, CNOR, is Pre-Procedure Assessment Coordinator, Endoscopy, Memorial Sloan-Kettering Cancer Center, New York.
Mastocytosis is a rare and underdiagnosed disorder characterized by mast cell proliferation in the tissues and organs of the body. The gastrointestinal manifestations of the disease can be noted in approximately 70%-80% of those patients diagnosed with the disorder. Symptomatic manifestations of systemic mastocytosis can either be triggered spontaneously or be precipitated by a variety of situations, stimuli, and exposures. Read More
Am J Dermatopathol 2018 Sep 24. Epub 2018 Sep 24.
Departments of Dermatology, and.
Mastocytosis is a heterogeneous group of disorders with a variable clinical course, ranging from indolent disease with normal life expectancy to highly aggressive disease. In the skin, mast cells may show a spindle-shape appearance or appear as round cells with wide, polygonal cytoplasm. In this study, we present a case series of 4 patients with cutaneous childhood-onset mastocytosis in whom skin mast cells showed striking nuclear pleomorphism with bilobed and multilobed nuclei. Read More
Mol Cell Oncol 2018 11;5(3):e1435183. Epub 2018 Apr 11.
Blueprint Medicines, Cambridge, MA, USA.
Cancer genomics and mechanistic studies have revealed that heterogeneous mutations within a single kinase can result in a variety of activation mechanisms. The challenge has been to match these insights with tailored drug discovery strategies to yield potent, highly selective drugs. With optimized drugs in hand, physicians could apply the principles of personalized medicine with an increasing number of options to treat patients with improved precision according to their tumor's molecular genotype. Read More
PLoS One 2018 20;13(9):e0203671. Epub 2018 Sep 20.
Department of Science for Health Promotion and Mother to Child Care "G. D'Alessandro", University of Palermo, Palermo, Italy.
Anisakis simplex spp. sensitization rates have increased worldwide, with a significant impact on health-care systems. To date, no clear-cut diagnostic criteria and laboratory algorithm have been established, so anisakiasis still represents an under-reported health problem whose clinical manifestations, when present, mimic the much more common allergic and digestive disorders. Read More
Front Med (Lausanne) 2018 31;5:243. Epub 2018 Aug 31.
Department of Biomolecular Chemistry, University of Wisconsin, Madison, WI, United States.
J Clin Nurs 2018 Sep 19. Epub 2018 Sep 19.
Migrant Health Clinic, Odense University Hospital, Center of Global Health, University of Southern Denmark, Odense, Denmark.
Aim: To investigate and gain knowledge about patients' perspectives on everyday life with mastocytosis and how they experience, understand and manage symptoms and challenges.
Background: Indolent systemic mastocytosis (ISM) is a disease characterised by the accumulation and activation of mast cells. Symptoms are diverse and range from mild to severely debilitating or even fatal. Read More
Clin Case Rep 2018 Sep 31;6(9):1834-1840. Epub 2018 Jul 31.
Pediatric Allergy & Immunology Massachusetts General Hospital Boston MA USA.
Diffuse cutaneous mastocytosis (DCM) is a rare but potentially fatal condition when diagnosis and targeted treatments are delayed. This case illustrates the life-threatening complications in DCM and reviews the currently available treatments. To our knowledge, this is the first report of mastocytosis with somatic K509I mutation and concomitant tuberous sclerosis. Read More
J Comp Pathol 2018 Aug 18;163:6-9. Epub 2018 Jul 18.
Laboratory of Veterinary Pathology, Joint Faculty of Veterinary Medicine, Yamaguchi University, 1677-1, Yoshida, Yamaguchi, Japan. Electronic address:
Stem cell factor (SCF) is a ligand of the molecule Kit, which is expressed in mast cells and is important for mast cell proliferation, migration and survival. Mast cell tumours (MCTs) are associated with mutations of c-kit, a proto-oncogene encoding the Kit protein. In this study, we examined SCF expression in 23 samples of feline MCTs. Read More
Future Oncol 2018 11 12;14(26):2713-2723. Epub 2018 Sep 12.
Immunology & Allergology, University of Salerno, Salerno, Italy.
Aim: We collected 'real-life' data on the management of patients with mastocytosis in the Italian Mastocytosis Registry.
Methods: Six hundred patients diagnosed with mastocytosis between 1974 and 2014 were included from 19 centers.
Results: Among adults (n = 401); 156 (38. Read More
Blood Adv 2018 Sep;2(17):2273-2281
Immunology and Allergy Unit, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
Hematopoietic stem cells differentiate into all types of blood cells, including peripheral tissue-resident mast cells. The early mast cell differentiation takes place in the bone marrow, after which the progenitor cells enter the circulation and mature once reaching their target organ. Early results from single-cell culture experiments and colony-forming assays have produced the classic hierarchical tree model of hematopoiesis. Read More
Stem Cell Reports 2018 Oct 6;11(4):1009-1020. Epub 2018 Sep 6.
Erasmus Stem Cell Institute, Department of Cell Biology, Erasmus Medical Center, Rotterdam, Netherlands; MRC Centre for Inflammation Research, Queen's Medical Research Institute, University of Edinburgh, 47 Little France Crescent, Edinburgh EH16 4TJ, UK. Electronic address:
Mast cells are tissue-resident immune cells. Their overgrowth/overactivation results in a range of common distressing, sometimes life-threatening disorders, including asthma, psoriasis, anaphylaxis, and mastocytosis. Currently, drug discovery is hampered by use of cancer-derived mast cell lines or primary cells. Read More
Am J Med Genet A 2018 Nov 8;176(11):2259-2275. Epub 2018 Sep 8.
Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York.
De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient with mosaicism for a GNB1 mutation who presented with a milder phenotype. Read More
Pediatr Dermatol 2018 Nov 6;35(6):e348-e352. Epub 2018 Sep 6.
Department of Dermatology, University of California Irvine, Irvine, California.
A 6-month-old boy was referred to our burn unit with a recurrent bullous dermatitis, fever, and emesis, originally diagnosed as staphylococcal scalded skin syndrome (SSSS) at an outside hospital. Infectious workup was negative and shave biopsy revealed a dense, diffuse dermal infiltrate of mast cells, consistent with diffuse cutaneous bullous mastocytosis-a rare variant of cutaneous mastocytosis. Treatment included a prolonged course of corticosteroids and antihistamines. Read More
Clin Exp Dermatol 2019 01 3;44(1):76-77. Epub 2018 Sep 3.
Dermatology Unit, Istituto Nazionale di Riposo e Cura per Anziani, INRCA-IRCCS Hospital, via della Montagnola 81, Ancona, 60127, Italy.
Am J Hematol 2018 Dec 17;93(12):E383-E386. Epub 2018 Oct 17.
Divisions of Hematology, Mayo Clinic, Rochester, Minnesota.
Curr Hematol Malig Rep 2018 Oct;13(5):407-416
Division of Hematology, Stanford Cancer Institute / Stanford University School of Medicine, 875 Blake Wilbur Drive, Room 2324, Stanford, CA, 94305-5821, USA.
Purpose Of Review: We discuss recent developments in the treatment of advanced systemic mastocytosis (advSM) with inhibitors of the KIT receptor tyrosine kinase.
Recent Findings: advSM is a heterogeneous group of neoplasms of poor prognosis characterized by the accumulation of neoplastic mast cells. The canonical KIT D816V mutation is present in approximately 90% of SM patients, and its detection is critical for both diagnosis and therapeutic decision-making. Read More
Am J Hematol 2018 Dec 26;93(12):1461-1466. Epub 2018 Sep 26.
Divisions of Hematology, Mayo Clinic, Rochester, Minnesota.
The World Health Organization (WHO) system lists five morphological categories of systemic mastocytosis (SM): indolent (ISM), smoldering, SM with an associated hematological neoplasm (SM-AHN), aggressive (ASM) and mast cell leukemia (MCL). Recent studies have highlighted the prognostic importance of mutations in SM, including ASXL1, RUNX1, and SRSF2. In contrast, information on incidence of cytogenetic abnormalities in SM and their prognostic relevance, especially in the context of mutations, is limited. Read More
J Allergy Clin Immunol Pract 2018 Aug 24. Epub 2018 Aug 24.
The National Institutes of Health, National Institute of Allergy and Infectious Diseases, Laboratory of Allergic Disease, Bethesda, Md.
Biochemistry 2018 Sep 13;57(38):5576-5590. Epub 2018 Sep 13.
Oncology Disease Area, Novartis Institutes for Biomedical Research , Novartis International AG , CH-4002 Basel , Switzerland.
The multitargeted protein kinase inhibitor midostaurin is approved for the treatment of both newly diagnosed FLT3-mutated acute myeloid leukemia (AML) and KIT-driven advanced systemic mastocytosis. AML is a heterogeneous malignancy, and investigational drugs targeting FLT3 have shown disparate effects in patients with FLT3-mutated AML, probably as a result of their inhibiting different targets and pathways at the administered doses. However, the efficacy and side effects of drugs do not just reflect the biochemical and pharmacodynamic properties of the parent compound but are often comprised of complex cooperative effects between the properties of the parent and active metabolites. Read More
Acta Biochim Pol 2018 27;65(3):471-478. Epub 2018 Aug 27.
Department of Geriatrics, Qilu Hospital, Shandong University Jinan, Shandong, China.
Mast cells play an important role in both, the innate and adaptive immunity, however, clonal proliferation of abnormal mast cells in various organs leads to mastocytosis. A skin variant of the disease, cutaneous mastocytosis (CM) is the most frequent form of mastocytosis in children. HtrA proteases are modulators of important cellular processes, including cell signaling and apoptosis, and are related to development of several pathologies. Read More