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Pharmaceuticals (Basel) 2022 Jun 11;15(6). Epub 2022 Jun 11.

Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Systemic mastocytosis (SM) results from a clonal proliferation of abnormal mast cells (MCs) in extra-cutaneous organs. It could be divided into indolent SM, smoldering SM, SM with an associated hematologic (non-MC lineage) neoplasm, aggressive SM, and mast cell leukemia. SM is generally associated with the presence of a gain-of-function somatic mutation in at codon 816. Read More

Clin Transl Allergy 2022 Jun 14;12(6):e12167. Epub 2022 Jun 14.

Cancer Research Center (IBMCC, USAL-CSIC) Department of Medicine and Cytometry Service (NUCLEUS) Universidad de Salamanca Salamanca Spain.

Background: Mast cells (MC) from systemic mastocytosis (SM) patients release MC mediators that lead to an altered microenvironment with potential consequences on innate immune cells, such as monocytes and dendritic cells (DC). Here we investigated the distribution and functional behaviour of different populations of blood monocytes and DC among distinct diagnostic subtypes of SM.

Methods: Overall, we studied 115 SM patients - 45 bone marrow mastocytosis (BMM), 61 indolent SM (ISM), 9 aggressive SM (ASM)- and 32 healthy donors (HD). Read More

Allergol Immunopathol (Madr) 2022 17;50(S Pt 1):17-29. Epub 2022 May 17.

Division of Pediatric Allergy and Clinical Immunology, Department of Pediatrics, McGill University Health Centre, Montreal, Canada.

Urticaria diagnosis may be challenging in children since it can be triggered or related to numerous conditions. In this paper, we reviewed the main aspects regarding the diagnosis of urticaria in the pediatric population. Acute urticaria is often due to viral infections. Read More

J Allergy Clin Immunol Pract 2022 Jun 17. Epub 2022 Jun 17.

Division of Allergy and Clinical Immunology, University of Salerno, Italy.

Indolent systemic mastocytosis (ISM) has a favorable prognosis and normal life expectancy. However, many patients suffer from mast cell (MC) mediator-related symptoms, which significantly affect quality of life (QoL). Cutaneous, gastrointestinal and neurological complaints, musculoskeletal pain as well as the presence of skin lesions, anaphylaxis and osteoporosis are the main symptoms and signs in ISM and must be assessed in all patients before and during treatment. Read More

J Allergy Clin Immunol Pract 2022 Jun 17. Epub 2022 Jun 17.

Institute of Pathology, University Hospital Salzburg, Paracelsus Medical University Salzburg, Austria;; Institute of Pathology, Ludwig-Maximilians-University, Munich, Germany.

Pathology plays a central role in the diagnosis of systemic mastocytosis (SM), its delineation from other neoplasms and reactive conditions, and in monitoring of SM under therapy. The morphologic hallmark of SM is the accumulation of spindle-shaped, hypogranulated mast cells (MCs) in bone marrow (BM) and other extracutaneous tissues. Four out of the five WHO-defined diagnostic criteria (i. Read More

J Allergy Clin Immunol Pract 2022 Jun 17. Epub 2022 Jun 17.

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

Advanced systemic mastocytosis (AdvSM) is characterized by presence of the KIT D816V and other somatic mutations (e.g. in SRSF2, ASXL1, RUNX1) in 95% and 60-70% of patients, respectively. Read More

Cancer Genet 2022 May 24;266-267:33-36. Epub 2022 May 24.

Department of Pathology, Penn State Hershey Medical Center, Hershey, PA, United States of America.

Mast cell leukemia (MCL) is a leukemic variant of systemic mastocytosis defined by mast cells ≥ 20% of marrow nucleated cells. Its incidence is < 1% of all systemic mastocytosis cases [1]. Clinical characteristics and treatment of the disease are not well established and overall prognosis is very poor. Read More

Front Med (Lausanne) 2022 25;9:847382. Epub 2022 May 25.

State Key Laboratory of Complex Severe and Rare Diseases, Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases, Beijing, China.

Background: is a proto-oncogene that is involved in the proliferation, survival, and regulation of melanocytes, mast cells, and the interstitial cells of Cajal. Mutations of have been reported to be associated with hyperpigmentation and lentigines, mastocytosis, and gastrointestinal stromal tumors (GISTs). Some hotspot mutations of have been reported to be associated with mastocytosis and GISTs, while the relationship between mutations and hyperpigmentation and lentigines has not been fully elucidated. Read More

J Invest Dermatol 2022 Jun 9. Epub 2022 Jun 9.

Institute of Biology, Division of Cell and Developmental Biology, Leipzig University, Leipzig, Germany.

Epidermolysis bullosa simplex (EBS) is a severe and potentially life-threatening disorder for which no adequate therapy exists. Most cases are caused by dominant mutations in keratins KRT5 or KRT14, leading to the formation of cytoplasmic keratin aggregates, profound keratinocyte fragility and cytolysis. We hypothesized that pharmacological reduction of keratin aggregates, which compromise keratinocyte integrity, represents a viable strategy for the treatment of EBS. Read More

Hematol Transfus Cell Ther 2022 May 26. Epub 2022 May 26.

Clinical Immunology and Allergy Division. Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

Introduction: Systemic Mastocytosis comprises a group of neoplastic diseases characterized by clonal expansion and infiltration of mast cells into several organs. The diagnosis and treatment of this disease may be challenging for non-specialists.

Objective: Make suggestions or recommendations in Systemic Mastocytosis based in a panel of Brazilian specialists. Read More

J Clin Med 2022 Jun 1;11(11). Epub 2022 Jun 1.

Clinica Pediatrica, Dipartimento Medicina e Chirurgia, Università di Parma, 43126 Parma, Italy.

Mastocytosis, a heterogeneous mastcell disease, include three different entities: cutaneous mastocytosis, systemic mastocytosis (SM) and mast-cell sarcoma. Tryptase levels can differentiate cutaneous mastocytosis from SM. In mastocytosis, quick onset drug hypersensitivity reactions (DHRs) that are facilitated by mastcell mediators, are investigated in adults. Read More

JAAD Case Rep 2022 Jun 26;24:71-73. Epub 2022 Apr 26.

Frontier Dermatology Partners, Mill Creek, Washington.

Blood Adv 2022 May 31. Epub 2022 May 31.

Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.

Advanced systemic mastocytosis (AdvSM) is a rare myeloid neoplasm, driven by KIT D816V mutation in >90% of patients. Avapritinib, a potent, highly selective inhibitor of D816V-mutant KIT, is approved for treatment of adults with AdvSM by the US Food and Drug Administration, regardless of prior therapy, and the European Medicines Agency, for patients with prior systemic therapy, based on EXPLORER (NCT02561988) and PATHFINDER (NCT03580655) clinical studies. We present latest pooled efficacy and safety analyses from patients who received ≥1 systemic therapy prior to avapritinib in EXPLORER/PATHFINDER. Read More

Cancer Manag Res 2022 23;14:1783-1794. Epub 2022 May 23.

Cancer Center, Department of Hematology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, Zhejiang, 310014, People's Republic of China.

Background: Mast cell leukemia (MCL) is a highly life-threatening and extremely rare subtype of systemic mastocytosis (SM). MCL often genetically contains one or more somatic mutations, particularly activating mutations of . This study reported on an acute MCL patient who had a rare phenotype and genetic mutants with a history of primary malignant mediastinal germ cell tumor (GCT). Read More

Vet Dermatol 2022 May 30. Epub 2022 May 30.

Clinic for Internal Diseases, Faculty of Veterinary Medicine University of Zagreb, Zagreb, Croatia.

Background: Cutaneous bullous mastocytosis (CBM) is a rare disease characterised by erythroderma, bullae formation on trunk, scalp and extremities which evolve to erosions.

Objective: To describe a rare variant of cutaneous mastocytosis and treatment options.

Animal: A 7-month-old Yorkshire terrier puppy with erythroderma and bullae formation. Read More

Cancers (Basel) 2022 May 18;14(10). Epub 2022 May 18.

Cancer Research Center (IBMCC, USAL/CSIC), Department of Medicine, Universidad de Salamanca, Biomedical Research Institute of Salamanca and Spanish Network on Mastocytosis (REMA), 37007 Salamanca, Spain.

Systemic mastocytosis (SM) is a rare clonal haematopoietic stem cell disease in which activating mutations (most commonly D816V) are present in virtually every (>90%) adult patient at similar frequencies among non-advanced and advanced forms of SM. The D816V mutation is considered the most common pathogenic driver of SM. Acquisition of this mutation early during haematopoiesis may cause multilineage involvement of haematopoiesis by D816V, which has been associated with higher tumour burden and additional mutations in other genes, leading to an increased rate of transformation to advanced SM. Read More

J Allergy Clin Immunol Pract 2022 May 25. Epub 2022 May 25.

Department of Hematological Biology, Pitié-Salpêtrière Hospital, Pierre et Marie Curie University (UPMC), Paris, France.

Mast cell activation (MCA) is common and occurs in a number of pathologic conditions, including IgE-dependent and independent allergic reactions, atopic disorders, autoimmune processes, and mastocytosis. In a subset of patients, no underlying disease and no known trigger of MCA are found. When the symptoms are severe, systemic, and recurrent, and accompanied by a diagnostic increase in the serum tryptase level or other mast cell mediators, an MCA syndrome (MCAS) may be diagnosed. Read More

Mediterr J Hematol Infect Dis 2022 1;14(1):e2022040. Epub 2022 May 1.

Department of Radiological and Hematological Sciences Fondazione, Policlinico Universitario A. Gemelli, IRCCS Università Cattolica del Sacro Cuore, Largo A. Gemelli, 100168, Rome, Italy.

Management of Indolent and Smoldering SM is focused on preventing anaphylactic reactions and identifying and avoiding symptom triggers. Skin and gastrointestinal symptoms are managed with H1- and H2-antihistamines. When skin symptoms are not adequately controlled, leukotriene antagonists and oral psoralen combined with ultraviolet therapy may be added. Read More

Int Arch Allergy Immunol 2022 May 23:1-13. Epub 2022 May 23.

Department of Dermatology and Allergy Biederstein, Technical University of Munich, Munich, Germany.

Mast cell activation syndromes (MCASs) are defined by systemic severe and recurrent mast cell activation, usually in form of anaphylaxis, a substantial, event-related increase of the serum tryptase level beyond the individual's baseline and a response of the symptomatology to drugs directed against mast cells, mast cell-derived mediators, or mediator effects. A number of predisposing genetic conditions, underlying allergic and other hypersensitivity states, and related comorbidities can contribute to the clinical manifestation of MCASs. These conditions include hereditary alpha tryptasemia, mastocytosis with an expansion of clonal KIT-mutated mast cells, atopic diathesis, and overt IgE-dependent and IgE-independent allergies. Read More

J Allergy Clin Immunol Pract 2022 May 18. Epub 2022 May 18.

Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

The measurement of mast cell tryptase levels in serum has found utility in the diagnosis and management of both clonal mast cell disorders and severe mast cell-dependent systemic reactions in the form of anaphylaxis. A more recent discovery is that a majority of individuals with elevated basal serum tryptase levels have increased germline TPSAB1 gene copy number encoding α-tryptase. This genetic trait is referred to as hereditary α-tryptasemia (HαT) and affects nearly 6% of the general population. Read More

Clin Exp Dermatol 2022 May 20. Epub 2022 May 20.

Department of pathology, Erasmus University MC, Rotterdam, The Netherlands.

Background: Mastocytosis is characterized by the accumulation of mast cells (MC) in skin or other organs and can manifest at all ages. The majority of pediatric mastocytosis cases persist after puberty. In particular, monomorphic maculopapular cutaneous mastocytosis (mMPCM) is often persistent and associated with systemic mastocytosis. Read More

Front Oncol 2022 27;12:874178. Epub 2022 Apr 27.

Division of Hematology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) S. Matteo Hospital Foundation, Pavia, Italy.

Mastocytosis encompasses a subset of rare diseases, characterized by the presence and accumulation of abnormal neoplastic MC in various organ systems, including skin, bone marrow, spleen and gastrointestinal tract. Clinical manifestations are highly heterogeneous, as they result from both MC mediator release and MC organ infiltration. Both pregnancy, a lifetime dominated by huge physiological changes, and labor can provide triggers that could induce worsening of mastocytosis symptoms. Read More

Hum Pathol 2022 May 10;126:55-62. Epub 2022 May 10.

Instituto D'Or de Pesquisa e Ensino (IDOR), São Paulo, 04501-000, Brazil; Laboratory of Investigative Pathology, CIPED, University of Campinas (Unicamp), Campinas, São Paulo, 13083-887, Brazil; Anatomic Pathology D'Or Hospitals Network, São Paulo, 04321-120, Brazil; Multipat Laboratory of Pathology, Campinas, São Paulo, 13086-130, Brazil.

Systemic mastocytosis (SM) is a myeloid neoplasm characterized by abnormal growth and accumulation of neoplastic mast cells in at least one extracutaneous site. Clinical presentation and course are variable, most patients are developing an indolent disease and some, an aggressive/leukemic form. Because of its rarity, most physicians are unfamiliar with this disease and do not readily diagnose it. Read More

J Allergy Clin Immunol 2022 May 9. Epub 2022 May 9.

Division of Allergy and Clinical Immunology, Brigham and Women's Hospital, Boston, Mass; Harvard Medical School, Boston, Mass.

Background: Patients with systemic mastocytosis often have symptoms of mast cell activation, which is associated with elevated levels of urinary mast cell mediator metabolites. Patients with hereditary α-tryptasemia (HαT) may present with symptoms of mast cell activation. Whether levels of mast cell mediators are elevated in this patient population is not known. Read More

J Allergy Clin Immunol 2022 Apr 30. Epub 2022 Apr 30.

Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.

Background: In subjects with systemic mastocytosis, the number of mast cells is elevated many fold. These patients frequently experience unpredictable and recurrent life-threatening mast cell activation (MCA) events.

Objective: Our aim was to analyze the derangements of chemokine and cytokine concentrations during severe MCA attacks. Read More

Blood Adv 2022 May 2. Epub 2022 May 2.

Karolinska Institutet and Karolinska University Hospital, Solna, Sweden.

Mast cell accumulation is a hallmark of a number of diseases including allergic asthma and systemic mastocytosis. IgE-mediated crosslinking of the FceRI receptors causes mast cell activation and contributes to disease pathogenesis. The mast cell lineage is one of the least studied among the hematopoietic cell lineages and there are still controversies about whether FcεRI expression appears during the mast progenitor stage or during terminal mast cell maturation. Read More

J Allergy Clin Immunol 2022 Jun 26;149(6):1912-1918. Epub 2022 Apr 26.

Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria; Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, Vienna, Austria.

Indolent systemic mastocytosis (ISM) is the most prevalent form of systemic mastocytosis. Many patients with ISM suffer from mast cell (MC) mediator-related symptoms. In a small number of patients, hematologic progression is seen in the follow-up. Read More

Am J Ther 2022 Apr 21. Epub 2022 Apr 21.

Division of Hematology and Oncology, Department of Internal Medicine, University of Toledo, Toledo, OH.

J Allergy Clin Immunol 2022 Jun 14;149(6):1855-1865. Epub 2022 Apr 14.

Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, Vienna, Austria; Department of Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria.

Mast cell neoplasms are an emerging challenge in the fields of internal medicine, allergy, immunology, dermatology, laboratory medicine, and pathology. In this review, we discuss the current standards for the diagnosis and prognostication of mast cell neoplasms with special reference to clinically relevant germline and somatic gene variants. In patients with cutaneous mastocytosis or with indolent systemic mastocytosis (SM), various KIT-activating mutations act as key molecular drivers of the disease. Read More

BMJ Case Rep 2022 Apr 15;15(4). Epub 2022 Apr 15.

Community Dental Service, University Hospitals Plymouth NHS Trust, Plymouth, UK.

Mastocytosis is a term encompassing a group of clinical disorders characterised by clonal proliferation of abnormal mast cells (MCs) in organ systems of the body. Mastocytosis can be systemic (with or without skin involvement) or cutaneous, and can affect organs including bone marrow, liver, spleen, lymph nodes and mucosal surfaces. Patients with systemic mastocytosis (SM) are susceptible to triggers that could cause activation of abnormal MCs, resulting in multiorgan dysfunction and life-threatening anaphylactic reactions. Read More