2,202 results match your criteria Mastocytosis Systemic


A case of childhood-onset cutaneous mastocytosis with loss of wild-type KIT allele.

J Eur Acad Dermatol Venereol 2019 Feb 17. Epub 2019 Feb 17.

Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.

Childhood-onset cutaneous mastocytosis (CM) have been regarded as a clonal disease similar to adult-onset systemic mastocytosis since the discovery of somatic KIT mutations in pediatric patients. To our knowledge, all mutations previously detected in CM have been heterozygous. Here we report a case of pediatric CM in which only a KIT 502_503dupAY mutation, but not the wild-type allele, was detected. Read More

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http://dx.doi.org/10.1111/jdv.15501DOI Listing
February 2019

Multiple vertebral fractures as the first manifestation of systemic mastocytosis.

Osteoporos Int 2019 Feb 15. Epub 2019 Feb 15.

Rheumatology, Hospital Universitario de Gran Canaria Doctor Negrín, Las Palmas, Spain.

Systemic mastocytosis is a clonal disease of the mast cell progenitors of the bone marrow. The clinical picture varies from asymptomatic (indolent) to highly aggressive (mast cell leukemia). Up to one-third of patients with SM have osteoporosis and fractures. Read More

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http://dx.doi.org/10.1007/s00198-019-04897-9DOI Listing
February 2019

Midostaurin for the management of FLT3-mutated acute myeloid leukemia and advanced systemic mastocytosis.

Am J Health Syst Pharm 2019 Feb;76(5):268-274

Department of Pharmaceutical Care, University of Iowa Hospitals & Clinics, Iowa City, IA.

Purpose: This article reviews the pharmacology, efficacy, safety, cost, and future directions of midostaurin for the treatment of acute myeloid leukemia (AML), aggressive systemic mastocytosis, systemic mastocytosis with associated hematological neoplasm, and mast cell leukemia, collectively known as advanced systemic mastocytosis (SM).

Summary: Midostaurin was approved by the U.S. Read More

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http://dx.doi.org/10.1093/ajhp/zxy050DOI Listing
February 2019
1 Read

Proposed Diagnostic Algorithm for Patients With Suspected Mast Cell Activation Syndrome.

J Allergy Clin Immunol Pract 2019 Feb 5. Epub 2019 Feb 5.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

Mast cell activation (MCA) accompanies diverse physiologic and pathologic processes and is one of the more frequently encountered conditions in medicine. MCA-related symptoms are usually mild and often transient. In such cases, histamine receptor blockers and other mediator-targeting drugs can usually control MCA. Read More

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http://dx.doi.org/10.1016/j.jaip.2019.01.006DOI Listing
February 2019
5 Reads

Bone Marrow Mast Cell Antibody-Targetable Cell Surface Protein Expression Profiles in Systemic Mastocytosis.

Int J Mol Sci 2019 Jan 28;20(3). Epub 2019 Jan 28.

Cancer Research Centre (IBMCC, USAL-CSIC), Cytometry Service (NUCLEUS) and Department of Medicine, University of Salamanca, 37007 Salamanca, Spain.

Despite recent therapeutic advances, systemic mastocytosis (SM) remains an incurable disease due to limited complete remission (CR) rates even after novel therapies. To date, no study has evaluated the expression on SM bone marrow mast cells (BMMC) of large panel of cell surface suitable for antibody-targeted therapy. In this study, we analyzed the expression profile of six cell-surface proteins for which antibody-based therapies are available, on BMMC from 166 SM patients vs. Read More

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http://dx.doi.org/10.3390/ijms20030552DOI Listing
January 2019
6 Reads

Novel Approaches for Systemic Mastocytosis.

Curr Opin Hematol 2019 Mar;26(2):112-118

Knight Cancer Institute.

Purpose Of Review: The purpose of this review is to summarize the pathophysiology of systemic mastocytosis, review the most recent clinical trials and drug development in systemic mastocytosis, with a specific focus on the advanced systemic mastocytosis subtypes.

Recent Findings: Systemic mastocytosis is a clonal neoplasm of mast cells that has had a number of successful therapeutic options being developed in the past few years. The first therapeutic agent to be Food and Drug Administration (FDA) approved in decades was midostaurin in 2017 with a 60% response rate % with improvement in both end-organ damage and symptoms. Read More

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http://dx.doi.org/10.1097/MOH.0000000000000486DOI Listing
March 2019
5 Reads

A registry-based analysis of survival outcomes in mast cell leukemia.

Leuk Res 2019 Mar 16;78:24-28. Epub 2019 Jan 16.

University of Rochester, Department of Radiation Oncology, 601 Elmwood Avenue, Rochester, NY, 14642, United States. Electronic address:

Introduction: Mast cell leukemia (MCL) is rare and carries a poor prognosis. No standard-of-care has been established. No USA registry-based analyses have examined clinical correlates of overall survival (OS) in MCL patients, thus we aimed to do this using the Surveillance, Epidemiology, and End Results (SEER) database, and the National Cancer Database (NCDB). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01452126193000
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http://dx.doi.org/10.1016/j.leukres.2019.01.005DOI Listing
March 2019
5 Reads

Mast cells in mastocytosis and allergy - Important player in metabolic and immunological homeostasis.

Adv Med Sci 2019 Jan 11;64(1):124-130. Epub 2019 Jan 11.

Department of General and Medical Biochemistry, University of Gdańsk, Gdańsk, Poland.

The role of mast cell (MC) activity in pathophysiology is complex and challenging and its clinical effects are difficult to predict. Apart from the known role of MCs in basic immunological processes and allergy, underlined is their importance in bone mineralization and in regulation of autoimmune reactions. Mast cell mediators, especially those released from mast cells in degranulation, but also those released constitutively, are important both in metabolic and immunological processes. Read More

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http://dx.doi.org/10.1016/j.advms.2018.08.013DOI Listing
January 2019
2 Reads

Luke Fletcher, md1,2 and uma borate, md1,2.

Curr Opin Hematol 2019 Jan 11. Epub 2019 Jan 11.

Knight Cancer Institute.

Purpose Of Review: The purpose of this review is to summarize the pathophysiology of systemic mastocytosis, review the most recent clinical trials and drug development in systemic mastocytosis, with a specific focus on the advanced systemic mastocytosis subtypes.

Recent Findings: Systemic mastocytosis is a clonal neoplasm of mast cells that has had a number of successful therapeutic options being developed in the past few years. The first therapeutic agent to be Food and Drug Administration (FDA) approved in decades was midostaurin in 2017 with a 60% response rate % with improvement in both end-organ damage and symptoms. Read More

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http://dx.doi.org/10.1097/MOH.0000000000000486DOI Listing
January 2019
2 Reads

KIT D816 mutated/CBF-negative acute myeloid leukemia: a poor-risk subtype associated with systemic mastocytosis.

Leukemia 2019 Jan 11. Epub 2019 Jan 11.

Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, Germany.

KIT D816 mutations (KIT D816) are strongly associated with systemic mastocytosis (SM) but are also detectable in acute myeloid leukemia (AML), where they represent an adverse prognostic factor in combination with core binding factor (CBF) fusion genes. Here, we evaluated the clinical and molecular features of KIT D816/CBF-negative (CBF) AML, a previously uncharacterized combination. All KIT D816/CBF cases (n = 40) had histologically proven SM with associated AML (SM-AML). Read More

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http://www.nature.com/articles/s41375-018-0346-z
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http://dx.doi.org/10.1038/s41375-018-0346-zDOI Listing
January 2019
7 Reads

Cutaneous mastocytosis treatment: strategies, limitations and perspectives.

Postepy Dermatol Alergol 2018 Dec 13;35(6):541-545. Epub 2018 Aug 13.

Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Gdansk, Poland.

Mastocytosis is a rare myeloproliferative disease, characterized by excessive proliferation and accumulation of mast cells in the tissues. In cutaneous mastocytosis (CM), mast cells infiltration is limited to the skin, whereas in systemic mastocytosis (SM) internal organs are involved. The first-line treatment in CM is antimediator therapy (mainly H1 and H2 antihistamines) and short-term topical corticosteroids. Read More

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http://dx.doi.org/10.5114/ada.2018.77605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320483PMC
December 2018
1 Read

Molecular response to imatinib in KIT F522C-mutated systemic mastocytosis.

Leuk Res 2019 Feb 24;77:28-29. Epub 2018 Dec 24.

Department of Haematology, St. James's Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1016/j.leukres.2018.12.010DOI Listing
February 2019
1 Read

Systemic Mastocytosis, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology.

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

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http://www.jnccn.org/lookup/doi/10.6004/jnccn.2018.0088
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http://dx.doi.org/10.6004/jnccn.2018.0088DOI Listing
December 2018
22 Reads

Systemic mastocytosis with an associated hematological neoplasm masquerading as overt primary myelofibrosis.

Blood 2018 Dec;132(24):2613

Royal Jubilee Hospital.

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http://dx.doi.org/10.1182/blood-2018-09-875914DOI Listing
December 2018
10.452 Impact Factor

Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management.

Am J Hematol 2019 Mar 2;94(3):363-377. Epub 2019 Jan 2.

Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota.

Overview: Systemic mastocytosis (SM) results from a clonal proliferation of abnormal mast cells (MCs) 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

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajh.25371
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http://dx.doi.org/10.1002/ajh.25371DOI Listing
March 2019
23 Reads

Chondroitin sulfate inhibits secretion of TNF and CXCL8 from human mast cells stimulated by IL-33.

Biofactors 2019 Jan 6;45(1):49-61. 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

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http://dx.doi.org/10.1002/biof.1464DOI Listing
January 2019
3 Reads

The new tool "" in advanced systemic mastocytosis.

Hematology Am Soc Hematol Educ Program 2018 11;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

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http://dx.doi.org/10.1182/asheducation-2018.1.127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245986PMC
November 2018
8 Reads

Detection of KIT D816V in peripheral blood of children with manifestations of cutaneous mastocytosis suggests systemic disease.

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

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http://dx.doi.org/10.1111/bjh.15624DOI Listing
December 2018
13 Reads

Radiotherapy for breast cancer associated with a cutaneous presentation of systemic mastocytosis-a case report and literature review.

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

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http://dx.doi.org/10.1093/jscr/rjy317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250909PMC
November 2018
1 Read

Massive release of the histamine-degrading enzyme diamine oxidase during severe anaphylaxis in mastocytosis patients.

Allergy 2018 Nov 12. Epub 2018 Nov 12.

Department of Clinical Pharmacology, Medical University of Vienna, 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

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http://doi.wiley.com/10.1111/all.13663
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http://dx.doi.org/10.1111/all.13663DOI Listing
November 2018
7 Reads

The Data Registry of the European Competence Network on Mastocytosis (ECNM): Set Up, Projects, and Perspectives.

J Allergy Clin Immunol Pract 2019 Jan 8;7(1):81-87. 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

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http://dx.doi.org/10.1016/j.jaip.2018.09.024DOI Listing
January 2019
61 Reads

Mayo alliance prognostic system for mastocytosis: clinical and hybrid clinical-molecular models.

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

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http://www.bloodadvances.org/lookup/doi/10.1182/bloodadvance
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http://dx.doi.org/10.1182/bloodadvances.2018026245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234360PMC
November 2018
7 Reads

Mast cell disorders: From infancy to maturity.

Allergy 2019 Jan 28;74(1):53-63. Epub 2018 Nov 28.

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

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http://doi.wiley.com/10.1111/all.13657
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http://dx.doi.org/10.1111/all.13657DOI Listing
January 2019
21 Reads

Impact of somatic and germline mutations on the outcome of systemic mastocytosis.

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

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http://dx.doi.org/10.1182/bloodadvances.2018020628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234367PMC
November 2018
17 Reads

Two cases of mimics of bone metastasis in breast cancer.

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

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http://dx.doi.org/10.1259/bjrcr.20170091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159113PMC
December 2017
3 Reads

Mastocytosis-derived extracellular vesicles exhibit a mast cell signature, transfer KIT to stellate cells, and promote their activation.

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

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http://www.pnas.org/lookup/doi/10.1073/pnas.1809938115
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http://dx.doi.org/10.1073/pnas.1809938115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233074PMC
November 2018
23 Reads

[Cutaneous mastocytosis - update and clinical guidelines].

Lakartidningen 2018 10 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

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October 2018
13 Reads

Epigenetic Modifiers in Myeloid Malignancies: The Role of Histone Deacetylase Inhibitors.

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

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http://www.mdpi.com/1422-0067/19/10/3091
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http://dx.doi.org/10.3390/ijms19103091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6212943PMC
October 2018
3 Reads

Mitral Valve Replacement in a Patient With Systemic Mastocytosis.

J Cardiothorac Vasc Anesth 2019 Mar 1;33(3):880-881. Epub 2018 Sep 1.

Cardiac Surgery Department, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá, Colombia.

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http://dx.doi.org/10.1053/j.jvca.2018.08.210DOI Listing
March 2019
3 Reads

Mastocytosis.

Authors:
Cathy S Birn

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

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http://dx.doi.org/10.1097/SGA.0000000000000344DOI Listing
January 2019
4 Reads

Targeting kinases with precision.

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

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http://dx.doi.org/10.1080/23723556.2018.1435183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149809PMC
April 2018
3 Reads

Everyday life and mastocytosis from a patient perspective-a qualitative study.

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

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http://dx.doi.org/10.1111/jocn.14676DOI Listing
September 2018
16 Reads

The Italian Mastocytosis Registry: 6-year experience from a hospital-based registry.

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

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http://dx.doi.org/10.2217/fon-2018-0291DOI Listing
November 2018
12 Reads

Deciphering the differentiation trajectory from hematopoietic stem cells to mast cells.

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

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http://dx.doi.org/10.1182/bloodadvances.2018019539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134220PMC
September 2018
6 Reads

Practice-relevant demarcation of systemic mastocytosis associated with another hematologic neoplasm.

Am J Hematol 2018 Dec 17;93(12):E383-E386. Epub 2018 Oct 17.

Divisions of Hematology, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1002/ajh.25269DOI Listing
December 2018
14 Reads

Clinical Validation of KIT Inhibition in Advanced Systemic Mastocytosis.

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

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http://dx.doi.org/10.1007/s11899-018-0469-3DOI Listing
October 2018
20 Reads

Cytogenetic abnormalities in systemic mastocytosis: WHO subcategory-specific incidence and prognostic impact among 348 informative cases.

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

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http://dx.doi.org/10.1002/ajh.25265DOI Listing
December 2018
24 Reads

Twelve-year follow-up of omalizumab therapy for anaphylaxis in 2 patients with systemic mastocytosis.

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.

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http://dx.doi.org/10.1016/j.jaip.2018.07.041DOI Listing
August 2018
7 Reads

Comparison of the Kinase Profile of Midostaurin (Rydapt) with That of Its Predominant Metabolites and the Potential Relevance of Some Newly Identified Targets to Leukemia Therapy.

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

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http://dx.doi.org/10.1021/acs.biochem.8b00727DOI Listing
September 2018
19 Reads

Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms: A Report of the Association for Molecular Pathology.

J Mol Diagn 2018 Nov 20;20(6):717-737. Epub 2018 Aug 20.

The Chronic Myeloid Neoplasms Working Group of the Clinical Practice Committee, Bethesda, Maryland; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

To address the clinical relevance of small DNA variants in chronic myeloid neoplasms (CMNs), an Association for Molecular Pathology Working Group comprehensively reviewed published literature, summarized key findings that support clinical utility, and defined critical gene inclusions for high-throughput sequencing testing panels. This review highlights the biological complexity of CMNs [including myelodysplastic syndromes, myeloproliferative neoplasms, entities with overlapping features (myelodysplastic syndromes/myeloproliferative neoplasms), and systemic mastocytosis], the genetic heterogeneity within diagnostic categories, and similarities between apparently disparate diagnostic entities. The founding variant's hematopoietic differentiation compartment, specific genes and variants present, order of variant appearance, individual subclone dynamics, and therapeutic intervention all contribute to the clinicopathologic features of CMNs. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15251578173040
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http://dx.doi.org/10.1016/j.jmoldx.2018.07.002DOI Listing
November 2018
20 Reads

FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis.

Oncologist 2018 Dec 16;23(12):1511-1519. Epub 2018 Aug 16.

Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, Maryland, USA.

In April 2017, the U.S. Food and Drug Administration granted regular approval to midostaurin for the treatment of adult patients with aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated hematological neoplasm (SM-AHN), or mast cell leukemia (MCL). Read More

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http://theoncologist.alphamedpress.org/lookup/doi/10.1634/th
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http://dx.doi.org/10.1634/theoncologist.2018-0222DOI Listing
December 2018
16 Reads

Isolated thrombocytopenia in childhood: what if it is not immune thrombocytopenia?

Singapore Med J 2018 07;59(7):390-393

Children's Haematology and Cancer Centre, Mount Elizabeth Hospital, Singapore.

Introduction: Childhood immune thrombocytopenia (ITP) remains a diagnosis of exclusion when isolated thrombocytopenia is not part of another disease process. In practice, the diagnosis of ITP can only be confirmed when thrombocytopenia resolves or is excluded after the recognition of a primary cause.

Methods: The records of 87 consecutive children with isolated thrombocytopenia seen over a nine-year period in a private paediatric haematology practice were reviewed retrospectively. Read More

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http://dx.doi.org/10.11622/smedj.2018089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056371PMC
July 2018
4 Reads

Midostaurin: A Multiple Tyrosine Kinases Inhibitor in Acute Myeloid Leukemia and Systemic Mastocytosis.

Recent Results Cancer Res 2018 ;212:199-214

Department of Internal Medicine V, University Hospital of Heidelberg, Heidelberg, Germany.

Midostaurin (PKC412, Rydapt) is an oral multiple tyrosine kinase inhibitor. Main targets are the kinase domain receptor, vascular endothelial-, platelet derived-, and fibroblast growth factor receptor, stem cell factor receptor c-KIT, as well as mutated and wild-type FLT3 kinases. Midostaurin was approved by the Food and Drug Administration (FDA) and the European Medical Agency (EMA) for acute myeloid leukemia with activating FLT3 mutations in combination with intensive induction and consolidation therapy as well as aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated hematological neoplasm (SM-AHN) or mast cell leukemia (MCL). Read More

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http://dx.doi.org/10.1007/978-3-319-91439-8_10DOI Listing
January 2018
5 Reads

Aggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia.

Case Rep Hematol 2018 8;2018:6928571. Epub 2018 Jul 8.

Rosalind Franklin University, 3333 Green Bay Road, North Chicago, IL 60064, USA.

Aggressive systemic mastocytosis (ASM) is characterized by mast cell accumulation in systemic organs. Though ASM may be associated with other hematological disorders, the association with pure red cell aplasia (PRCA) is rare and has not been reported. Pure red cell aplasia (PRCA) is a syndrome, characterized by normochromic normocytic anemia, reticulocytopenia, and severe erythroid hypoplasia. Read More

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http://dx.doi.org/10.1155/2018/6928571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057401PMC
July 2018
2 Reads

c-KIT-Positive Fatal Diffuse Cutaneous Mastocytosis With Systemic Manifestations in a Neonate.

J Pediatr Hematol Oncol 2018 Jul 31. Epub 2018 Jul 31.

Department of Neonatology, Maimonides Medical Center, Brooklyn.

Diffuse cutaneous mastocytosis is a rare variant of mastocytosis in the neonatal period. We describe a case of c-KIT (DV) mutation-positive fatal diffuse cutaneous mastocytosis with systemic involvement of the gastrointestinal tract and associated malabsorption and hepatosplenomegaly associated with mast cell mediator release symptoms. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001271DOI Listing
July 2018
2 Reads

Acquired von Willebrand syndrome during systemic mastocytosis: an analysis of 21 cases.

Pol Arch Intern Med 2018 Aug 11;128(7-8):491-493. Epub 2018 Jul 11.

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http://dx.doi.org/10.20452/pamw.4295DOI Listing
August 2018
4 Reads

Long-term Remission of Acute Myeloid Leukemia Developed From Systemic Mastocytosis by Conventional Chemotherapy.

J Pediatr Hematol Oncol 2018 Jul 23. Epub 2018 Jul 23.

Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki.

Systemic mastocytosis (SM) is a disorder characterized by abnormal proliferation of mast cells with KIT mutations, especially in codon 816. The prognosis of patients developing acute myeloid leukemia (AML) from SM is extremely poor, and hematopoietic cell transplantation is recommended. Herein, we describe a case of an 8-year-old female diagnosed with SM developing AML. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001259DOI Listing
July 2018
8 Reads

CD4 and CD30 Coexpression in a Cutaneous Manifestation of Systemic Mastocytosis-A Pitfall.

Am J Dermatopathol 2018 08;40(8):628-630

Department of Dermatology, Venereology and Allergology, HELIOS Klinikum, Hildesheim, Germany.

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http://dx.doi.org/10.1097/DAD.0000000000000895DOI Listing
August 2018
2 Reads

A Test Utilization Approach to the Diagnostic Workup of Isolated Eosinophilia in Otherwise Morphologically Unremarkable Bone Marrow: A Single Institutional Experience.

Am J Clin Pathol 2018 Oct;150(5):421-431

Division of Hematopathology, Mayo Clinic, Rochester, MN.

Objectives: Determine ancillary test utilization for the workup of isolated eosinophilia in otherwise morphologically unremarkable bone marrow (BM).

Methods: We evaluated BM ancillary testing performed in cases with isolated eosinophilia and otherwise morphologically unremarkable BM. Cases with abnormal morphology (eg, dysplasia, basophilia) and/or findings suggestive of a disorder (eg, unexplained thromboses, lymphoma) are specifically excluded. Read More

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http://dx.doi.org/10.1093/ajcp/aqy064DOI Listing
October 2018
10 Reads