2,227 results match your criteria Mastocytosis Systemic


Emerging translational science discoveries, clonal approaches and treatment trends in chronic myeloproliferative neoplasms.

Hematol Oncol 2019 Apr 23. Epub 2019 Apr 23.

University of California Irvine, Irvine, CA, USA.

The 60 American Society of Hematology (ASH) held in San Diego in December 2018 was followed by the 13 Post-ASH chronic myeloproliferative neoplasms (MPNs) workshop on the 4 -5 December 2018. This closed annual workshop, first introduced in 2006 by Goldman and Mughal, was organized in collaboration with Alpine Oncology Foundation and allowed experts in preclinical and clinical research in the chronic MPNs to discuss the current scenario, including relevant presentations at ASH, and address pivotal open questions that impact translational research and clinical management. This review is based on the presentations and deliberations at this workshop, and rather than provide a resume of the proceedings, we have selected some of the important translational science and treatment issues which require clarity. Read More

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http://dx.doi.org/10.1002/hon.2622DOI Listing

Frequency of isolated cutaneous involvement in adult mastocytosis: a cohort study.

J Eur Acad Dermatol Venereol 2019 Apr 22. Epub 2019 Apr 22.

Reference Centre for Mastocytosis (CEREMAST) Toulouse, Department of Dermatology, Toulouse University Hospital, Paul Sabatier University, Toulouse, France.

Background: Mastocytosis is characterized by the accumulation/proliferation of abnormal mast cells. The frequency of isolated cutaneous involvement in adults with mastocytosis has not been fully determined. The main objective of our study was to assess the frequency of isolated cutaneous mastocytosis (CM) in adults with mastocytosis skin lesions. Read More

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http://dx.doi.org/10.1111/jdv.15638DOI Listing

MDS with 5q deletion and rare positive mastocytosis: a diagnostic and therapeutic challenge.

BMJ Case Rep 2019 Apr 20;12(4). Epub 2019 Apr 20.

Department of Hematology and Medical Oncology, Oakland University William Beaumont School of Medicine, Royal Oak, Michigan, USA.

A patient with a diagnosis of myelodysplastic syndrome (MDS) with isolated 5q deletion underwent repeat bone marrow biopsy to assess haematological response after 6 months of initial lenalidomide therapy. Subsequent bone marrow biopsies revealed persistent MDS with del(5q) in addition to a small atypical mast cell population with >25% of mast cells with spindle-shaped morphology and immunohistochemistry characteristics consistent with mastocytosis. Molecular testing on the bone marrow was positive for D816V and the patient was diagnosed with systemic mastocytosis (SM) with an associated haematological neoplasm. Read More

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http://dx.doi.org/10.1136/bcr-2018-227768DOI Listing

Acute myeloid leukemia with t(8;21)(q22;q22.1)/RUNX1-RUNX1T1 and KIT Exon 8 mutation is associated with characteristic mastocytosis and dismal outcomes.

Exp Mol Pathol 2019 Apr 17. Epub 2019 Apr 17.

Departments of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States of America. Electronic address:

KIT mutations are observed in about 20-40% of acute myeloid leukemia with t(8;21)(q22;q22.1)/RUNX1-RUNX1T1 [abbreviated AML t(8;21) here] with mutations involving exon 17 being the most common. Despite high frequencies of KIT mutations in both AML t(8;21) and systemic mastocytosis (SM), AML t(8;21) associated with SM is uncommon, and restricted to KIT exon 17 mutated cases. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00144800193021
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http://dx.doi.org/10.1016/j.yexmp.2019.04.009DOI Listing
April 2019
5 Reads

1-CD30 expression in cutaneous lesions of systemic mastocytosis: clinical, biological and histopathological analysis of 27 patients.

J Eur Acad Dermatol Venereol 2019 Apr 16. Epub 2019 Apr 16.

Sorbonne Université, UPMC Université Paris 06, Unité Fonctionnelle de Dermatologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.

Mastocytosis is a composite group of heterogeneous diseases defined by the accumulation of abnormal mast cells (MCs) in various tissues. Cutaneous and bone marrow tissues are the most frequently infiltrated in adult patients with systemic mastocytosis (SM) (1) The CD30 (KI-1 antigen) receptor, belongings to the tumor necrosis factor receptor family, may have a role in mastocytosis. CD30 expression in MCs cytoplasm was reported in 2011 by Sotlar K et al. Read More

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http://dx.doi.org/10.1111/jdv.15633DOI Listing
April 2019
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Relevant updates in systemic mastocytosis.

Leuk Res 2019 Apr 4;81:10-18. Epub 2019 Apr 4.

Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States. Electronic address:

Systemic Mastocytosis (SM) is a rare myeloproliferative neoplasm (MPN) that is characterized by a clonal proliferation of mast cells (MCs). The symptoms and clinical presentation of SM are the result of both MC proliferation as well as activation and degranulation, causing hyperactive and over-exaggerated hypersensitivity responses, as well as organ infiltration by pathogenic MCs. The clinical presentation and course of SM is varied and organ involvement can lead to significant morbidity and mortality in some cases. Read More

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http://dx.doi.org/10.1016/j.leukres.2019.04.001DOI Listing
April 2019
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Single-cell analysis reveals the KIT D816V mutation in haematopoietic stem and progenitor cells in systemic mastocytosis.

EBioMedicine 2019 Apr 8. Epub 2019 Apr 8.

Department of Medicine Solna, Karolinska Institutet, and Karolinska University Hospital, Stockholm 17164, Sweden. Electronic address:

Background: Systemic mastocytosis (SM) is a haematological disease characterised by organ infiltration by neoplastic mast cells. Almost all SM patients have a mutation in the gene encoding the tyrosine kinase receptor KIT causing a D816V substitution and autoactivation of the receptor. Mast cells and CD34 haematopoietic progenitors can carry the mutation; however, in which progenitor cell subset the mutation arises is unknown. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S23523964193023
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http://dx.doi.org/10.1016/j.ebiom.2019.03.089DOI Listing
April 2019
7 Reads

Telangiectasia macularis eruptiva perstans: a neglected type of mastocytosis with exclusively cutaneous involvement? A case series.

Eur J Dermatol 2019 Apr 10. Epub 2019 Apr 10.

Institute of Dermatology Department of Clinical-Surgical, Diagnostic and Paediatric Sciences, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.

Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis (CM). Although TMEP has been traditionally thought to be restricted to the skin, a recent retrospective multicentric study established a diagnosis with systemic involvement of mastocytosis in 47% patients affected by TMEP and aggressive systemic mastocytosis in 9%. To evaluate systemic involvement in patients affected by TMEP. Read More

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http://dx.doi.org/10.1684/ejd.2019.3532DOI Listing
April 2019
1 Read

Successful mast-cell-targeted treatment of chronic dyspareunia, vaginitis, and dysfunctional uterine bleeding.

J Obstet Gynaecol 2019 Apr 9:1-6. Epub 2019 Apr 9.

c HealthPartners North Suburban Family Physicians , Roseville , MN , USA.

Dyspareunia, vaginitis and dysfunctional uterine bleeding (DUB) are common problems which, despite their polygenicity, commonly appear idiopathic and treatment-refractory. Mast cell (MC) activation syndrome (MCAS) is a newly-recognised, prevalent, chronic multisystem polymorbidity of general themes of inflammation ± allergic-type phenomena ± aberrant growth/development in assorted tissues. MCs produce significant quantities of heparin, too. Read More

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http://dx.doi.org/10.1080/01443615.2018.1550475DOI Listing
April 2019
6 Reads

Doctor, I Think I Am Suffering from MCAS: Differential Diagnosis and Separating Facts from Fiction.

J Allergy Clin Immunol Pract 2019 Apr;7(4):1109-1114

Division of Allergy and Clinical Immunology, University of Michigan, Ann Arbor, Mich.

Mast cell activation syndrome (MCAS) is a rare condition defined by a severe systemic reaction to mast cell (MC)-derived mediators. Most cases present with clinical signs of anaphylaxis, and some have an underlying IgE-dependent allergy. A primary MC disease (mastocytosis) may also be detected. Read More

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http://dx.doi.org/10.1016/j.jaip.2018.11.045DOI Listing
April 2019
1 Read

Mast Cell Activation Syndrome and Mastocytosis: Initial Treatment Options and Long-Term Management.

J Allergy Clin Immunol Pract 2019 Apr;7(4):1097-1106

Mayo Clinic Program for Mast Cell and Eosinophil Disorders, Mayo Clinic, Rochester, Minn.

Patients with clonal mast cell activation syndromes (MCAS) including cutaneous and systemic mastocytosis (SM) may present with symptoms of mast cell activation, but in addition can have organ damage from the local effects of tissue infiltration by clonal mast cells. Patients with nonclonal MCAS may have chronic or episodic mast cell activation symptoms with an increase in serum tryptase and/or urinary metabolites of histamine, prostaglandin D2, and leukotrienes. Symptoms of MCAS and SM can be managed by blockade of mediator receptors (H1 and H2 antihistamines, leukotriene receptor blockade), inhibition of mediator synthesis (aspirin, zileuton), mediator release (sodium cromolyn), anti-IgE therapy, or a combination of these approaches. Read More

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http://dx.doi.org/10.1016/j.jaip.2019.02.002DOI Listing
April 2019
2 Reads

Oncogenic D816V-KIT signaling in mast cells causes persistent IL-6 production.

Haematologica 2019 Apr 4. Epub 2019 Apr 4.

Mast Cell Biology Section, Laboratory of Allergic Diseases, NIAID, NIH;

Persistent dysregulation of IL-6 production and signaling have been implicated in the pathology of various cancers. In systemic mastocytosis, increased serum levels of IL-6 associate with disease severity and progression, although the mechanisms involved are not well understood. Since systemic mastocytosis often associates with the presence in hematopoietic cells of a somatic gain-of-function variant in KIT, D816V-KIT, we examined its potential role in IL-6 upregulation. Read More

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http://www.haematologica.org/lookup/doi/10.3324/haematol.201
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http://dx.doi.org/10.3324/haematol.2018.212126DOI Listing
April 2019
5 Reads

Inhibitory effects of midostaurin and avapritinib on myeloid progenitors derived from patients with KIT D816V positive advanced systemic mastocytosis.

Leukemia 2019 Mar 25. Epub 2019 Mar 25.

Department of Hematology and Oncology, University Medical Centre Mannheim, Mannheim, Germany.

Advanced systemic mastocytosis (advSM) is characterized by the presence of an acquired KIT D816V mutation in >90% of patients. In the majority of patients, KIT D816V is not only detected in mast cells but also in other hematopoietic lineages. We sought to investigate the effects of the KIT-inhibitors midostaurin and avapritinib on single-cell-derived myeloid progenitor cells using granulocyte-macrophage colony-forming-units of patients with KIT D816V positive advSM. Read More

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http://www.nature.com/articles/s41375-019-0450-8
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http://dx.doi.org/10.1038/s41375-019-0450-8DOI Listing
March 2019
3 Reads

[Surgical interventions in patients with systemic mast cell activation disease : Recommendations for perioperative management].

Chirurg 2019 Mar 14. Epub 2019 Mar 14.

Institut für Humangenetik, Universitätsklinikum Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Deutschland.

Background: Systemic mast cell activation disease (MCAD, prevalence 5-10%) is a multifactorial, polygenic disease with multisystemic symptoms that is characterized by an unregulated increased release of mast cell mediators and an accumulation of activated mast cells potentially in all organs and tissues. Due to the high prevalence of the disease, physicians involved in surgical, anesthesiological and interventional procedures are often unknowingly faced with MCAD patients experiencing unexpected preoperative, intraoperative and postoperative complications, if no mast cell-specific treatment regimens have been applied.

Objective: The findings from a literature search, consensus recommendations of the various international expert groups and extensive own experience in the treatment of MCAD patients enable an empirical and evidence-based care of MCAD patients in association with invasive procedures. Read More

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http://dx.doi.org/10.1007/s00104-019-0935-zDOI Listing
March 2019
3 Reads

Indolent systemic mastocytosis mimicking Crohn's disease.

Ann Gastroenterol 2019 Mar-Apr;32(2):208-210. Epub 2019 Jan 2.

School of Medicine, European University Cyprus (Alexandros Hatjivasilis, Kalliopi J. Ioakim, Anastasia Neocleous, Karolos Demetriou, Soni Panjiyar, George Potamitis), Cyprus.

Mastocytosis is a rare and heterogeneous group of diseases whose common element is the presence of dense mast-cell infiltrates in various tissues. The gastrointestinal (GI) tract is frequently affected with vague and subtle manifestations, making the diagnosis of GI mastocytosis rather formidable and challenging. The diagnosis of the disease requires a high level of clinical suspicion and an index of familiarity. Read More

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http://dx.doi.org/10.20524/aog.2018.0342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394271PMC
January 2019
1 Read

Reply to: "The "cholesterol paradox" in patients with mastocytosis".

Atherosclerosis 2019 Mar 2. Epub 2019 Mar 2.

Department of Internal Medicine, Laboratory Vascular Medicine, Erasmus MC, Rotterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2019.02.018DOI Listing
March 2019
1 Read

Anaphylactic risk due to systemic mastocytosis: Perioperative management in cardiac surgery.

Rev Esp Anestesiol Reanim 2019 Mar 5. Epub 2019 Mar 5.

Servicio de Anestesiología y Reanimación, Hospital Universitario de La Princesa, Madrid, España.

Mastocytosis is a disease characterised by an abnormal proliferation of mast cells. The degranulation of mast cells can be triggered by chemical, physical, and psychological factors, and in severe cases may be accompanied by cardiovascular alterations and shock. Tryptase concentrations greater than 20ug/L may be associated with an increased risk of mastocyte degranulation. Read More

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http://dx.doi.org/10.1016/j.redar.2019.01.008DOI Listing
March 2019
7 Reads

A case report of systemic mastocytosis associated with multiple hematologic non-mast cell lineage diseases.

Hematol Oncol 2019 Mar 8. Epub 2019 Mar 8.

Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Systemic mastocytosis (SM) is a hematological malignancy characterized by extracutaneous infiltration by atypical mast cells. Together with indolent SM, aggressive SM, and mast cell leukemia, the World Health Organization (WHO) recognizes another major disease subgroup: SM with an associated hematological neoplasm, which is characterized by the presence of a concurrent neoplasm, more commonly, a chronic myelomonocytic leukemia. While KIT D816V is commonly regarded as the driver mutation, the clinical presentation of SM is extremely varied. Read More

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http://dx.doi.org/10.1002/hon.2605DOI Listing
March 2019
3 Reads

Higher prevalence of vertebral fractures in systemic mastocytosis, but not in cutaneous mastocytosis and idiopathic mast cell activation syndrome.

Osteoporos Int 2019 Mar 7. Epub 2019 Mar 7.

Rheumatology Centre, Pierre Paul Riquet Hospital, Toulouse University Hospital & Paul Sabatier University, 1 Place du Dr Baylac, 31059, Toulouse, France.

Little is known about osteoporosis in mast cell disorders (MCDs) not related to systemic mastocytosis. We described osteoporosis and fractures in MCDs and showed that systemic mastocytosis was the only studied MCDs associated with osteoporotic vertebral fractures.

Introduction: To describe osteoporosis (OP) and fragility fractures in mast cell disorders (MCDs). Read More

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http://dx.doi.org/10.1007/s00198-019-04918-7DOI Listing
March 2019
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In vitro and in vivo efficacy of an anti-CD203c conjugated antibody (AGS-16C3F) in mouse models of advanced systemic mastocytosis.

Blood Adv 2019 Feb;3(4):633-643

INSERM, Unité Mixte de Recherche (UMR) 1170, Villejuif, France.

Antibody-drug conjugates (ADCs) are a new class of therapeutics that use antibodies to deliver potent cytotoxic drugs selectively to cancer cells. CD203c, an ecto-nucleotide pyrophosphatase-phosphodiesterase 3, is overexpressed on neoplastic mast cells (MCs) in systemic mastocytosis (SM), thus representing a promising target for antibody-mediated therapy. In this study, we have found that human neoplastic MC lines (ROSA and ROSA), which express high levels of CD203c, are highly and specifically sensitive to the antiproliferative effects of an ADC against CD203c (AGS-16C3F). Read More

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http://dx.doi.org/10.1182/bloodadvances.2018026179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391676PMC
February 2019
18 Reads

Acute Myeloid Leukemia with Occult Systemic Mastocytosis or Atypical Mast Cells Post-induction.

Cureus 2018 Dec 14;10(12):e3734. Epub 2018 Dec 14.

Oncology, Jinnah Postgraduate Medical Centre, Karachi, PAK.

Systemic mastocytosis (SM) is a state of disease that is related to the clonal, neoplastic proliferation of mast cells. Patients who present with SM-Acute Myeloid Leukemia (AML) often have the worst outcome. We present a case of an 18-year-old female who was diagnosed with AML (FLT3 (Fms like tyrosine kinase 3) and PML-RARA (promyelocytic leukemia-retinoic acid receptor alpha) translocation-negative) and after initial treatment with a standard induction regimen of cytarabine and daunorubicin (3+7 regimen), her bone marrow showed blast cells less than 5% and dense aggregates/sheets of atypical/immature mast cells with immunohistochemical stain CD117+ve and toluidine blue positive in mast cell aggregates. Read More

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http://dx.doi.org/10.7759/cureus.3734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384037PMC
December 2018
2 Reads

Arterio-venous fistula-expanding role for venous access in mastocytosis patients.

J Surg Case Rep 2019 Feb 19;2019(2):rjz053. Epub 2019 Feb 19.

Department of Vascular Surgery, Joondalup Health Campus, Joondalup, WA, Australia.

Long-term central venous access is increasingly common as there are growing number of patients suffering from conditions that require repeated infusions for various indications. However, central venous access has its downside where there is a risk of infection and thrombosis (F Pinelli, E Cecero, D Del'Innocenti, V Selmi, R Giua, G Villa , 'Infection of totally implantable venous access devices: a review of literature,' 2018;: 230-42.). Read More

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http://dx.doi.org/10.1093/jscr/rjz053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380077PMC
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
1 Read

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

Am J Health Syst Pharm 2019 02;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
2 Reads

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

J Allergy Clin Immunol Pract 2019 Apr 5;7(4):1125-1133.e1. 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
April 2019
33 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387409PMC
January 2019
11 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
14 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
15 Reads

An autopsy case of mast cell leukemia.

Pathol Int 2019 02 19;69(2):122-124. Epub 2019 Jan 19.

Department of Pathology, Saitama Medical University, Iruma, Japan.

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http://dx.doi.org/10.1111/pin.12753DOI Listing
February 2019
2 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
9 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
5 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
16 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
2 Reads

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
2 Reads

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
30 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
2 Reads
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
36 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
4 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
14 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
22 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
3 Reads

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

Allergy 2019 Mar 1;74(3):583-593. Epub 2019 Jan 1.

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
March 2019
12 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
80 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
9 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
29 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
28 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
4 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
31 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
19 Reads