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Eur Ann Allergy Clin Immunol 2021 Jun 11. Epub 2021 Jun 11.

Division of Clinical Immunology and Allergy, Department of Medicine, University Hospital and Faculty of Medicine, Geneva, Switzerland.

Clin Exp Allergy 2021 Jun 3. Epub 2021 Jun 3.

Department of Respiratory Sciences, College of Life Sciences, Institute for Lung Health, NIHR Leicester Biomedical Research Centre (Respiratory theme), University of Leicester and Respiratory and Allergy Services, University Hospitals of Leicester NHS Trust, Leicester, UK.

Background: A peripheral blood eosinophilia of greater than 1.0 × 10 /L is relatively unusual and offers a clue to the underlying diagnosis. In 2003, we established a specialist service to diagnose unexplained eosinophilia. Read More

Int J Mol Sci 2021 May 10;22(9). Epub 2021 May 10.

Department of Dermatology, Venerology and Allergology Medical University of Gdansk, 80-211 Gdańsk, Poland.

Mastocytosis is a heterogeneous group of hematologic neoplasms defined by an accumulation of neoplastic mast cells (MC) in the skin, bone marrow, and other visceral organs [... Read More

Int J Mol Sci 2021 May 5;22(9). Epub 2021 May 5.

Department of Hematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, 30625 Hannover, Germany.

Mastocytosis is a type of myeloid neoplasm characterized by the clonal, neoplastic proliferation of morphologically and immunophenotypically abnormal mast cells that infiltrate one or more organ systems. Systemic mastocytosis (SM) is a more aggressive variant of mastocytosis with extracutaneous involvement, which might be associated with multi-organ dysfunction or failure and shortened survival. Over 80% of patients with SM carry the D816V mutation. Read More

Br J Haematol 2021 Jun 1. Epub 2021 Jun 1.

Haematology and Oncology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.

We report on 45 patients with myeloid neoplasms and concurrent Janus kinase 2 (JAK2) V617F and KIT proto-oncogene, receptor tyrosine kinase (KIT) D816V (JAK2 /KIT ) mutations, which are individually identified in >60% of patients with classical myeloproliferative neoplasms (MPN) and >90% of patients with systemic mastocytosis (SM) respectively. In SM, the concurrent presence of a clonal non-mast cell neoplasm [SM with associated haematological neoplasm (SM-AHN)] usually constitutes a distinct subtype associated with poor survival. All 45 patients presented with a heterogeneous combination of clinical/morphological features typical of the individual disorders (e. Read More

J Allergy Clin Immunol Pract 2021 May 24. Epub 2021 May 24.

Department of Internal Medicine, Allergy Immunology, University of Michigan, Ann Arbor, Mich. Electronic address:

Prostaglandins Other Lipid Mediat 2021 Aug 21;155:106563. Epub 2021 May 21.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.

Aspirin-exacerbated respiratory disease and some cases of chronic idiopathic urticaria are disorders in which increased baseline urinary excretion of leukotriene(LT)E4 further increases following aspirin administration. Increased urinary excretion of the metabolites of prostaglandin D2, 11β-prostaglandin(PG)F2α and (2,3-dinor)-11β-PGF2α, have been documented in systemic mastocytosis (SM) and in mast cell activation syndrome (MCAS). Symptoms due to increased baseline and/or episodic release of PGD2 can be prevented with aspirin, an inhibitor of cyclooxygenase (COX)1 and COX2. Read More

Australas J Dermatol 2021 May 24. Epub 2021 May 24.

Department of Dermatology, Seth G.S. Medical College and K.E.M Hospital, Mumbai, India.

Leuk Res 2021 May 1;108:106606. Epub 2021 May 1.

Stanford University Medical Center, Palo Alto, CA, USA.

Background: The Advanced Systemic Mastocytosis Symptom Assessment Form (AdvSM-SAF) was developed to evaluate symptoms of advanced systemic mastocytosis (AdvSM). This study aimed to psychometrically evaluate AdvSM-SAF scores and provide score interpretation guidelines.

Methods: The 10-item AdvSM-SAF was administered daily (scored as a seven-day average) in EXPLORER, an open-label Phase 1 study in AdvSM. Read More

Blood Adv 2021 05;5(10):2481-2489

Adult Bone Marrow Transplant Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Patients with core-binding factor (CBF) acute myeloid leukemia (AML), caused by either t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22), have higher complete remission rates and longer survival than patients with other subtypes of AML. However, ∼40% of patients relapse, and the literature suggests that patients with inv(16) fare differently from those with t(8;21). We retrospectively analyzed 537 patients with CBF-AML, focusing on additional cytogenetic aberrations to examine their impact on clinical outcomes. Read More

J Pediatr Hematol Oncol 2021 May 18. Epub 2021 May 18.

Departments of Pediatric Hematology and Oncology Pediatric Allergy and Immunology, Ankara City Hospital, Children's Hospital Department of Pediatric Hematology and Oncology, Ankara Atilim University Department of Genetics, Ankara City Hospital, Ankara, Turkey.

Introduction: Mastocytosis is a rare and heterogenous disease, and in children it is generally limited to the skin and tends to regress spontaneously in adolescence.

Aim: In this study, demographic, clinical, and laboratory characteristics of pediatric patients with mastocytosis, and also coexisting diseases were investigated.

Results: A total of 61 pediatric patients were included in the study. Read More

J Eur Acad Dermatol Venereol 2021 May 14. Epub 2021 May 14.

Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast) - Spanish Reference Center for Mastocytosis, Hospital Virgen del Valle, Complejo Hospitalario Universitario de Toledo, Toledo, Spain.

Background: Maculopapular cutaneous mastocytosis (MPCM) in children is classified in two variants: (i) monomorphic variant, presenting with the small macules or papules typically seen in adult patients; and (ii) polymorphic variant with larger lesions of variable size and shape, typically seen in children. The definition of polymorphic and monomorphic variants is mostly intuitive, and a validation of this classification has not been done.

Objective: To study interobserver variability in the classification of MPCM in two groups of observers: mastocytosis experts and general dermatologists. Read More

J Allergy Clin Immunol Pract 2021 May 8. Epub 2021 May 8.

Faculty of Medicine and Health Sciences, Department of Immunology, Allergology, and Rheumatology and the Infla-Med Centre of Excellence University of Antwerp; and Department of Immunology, Allergology, and Rheumatology, Antwerp University Hospital, Antwerp, Belgium; Department of Immunology and Allergology, AZ Jan Palfijn Gent, Ghent, Belgium.

Background: Anaphylaxis is frequent in patients suffering from primary mast cell disorders (PMCDs). In patients without mastocytosis in the skin (MIS) and a baseline serum tryptase (bST) less than 30 ng/mL, the diagnosis of PMCD is challenging. In these patients, detection of the KIT D816V mutation in peripheral blood (PB) has been suggested as screening tool for a PMCD. Read More

MEDICC Rev 2021 04 30;23(2):34. Epub 2021 Apr 30.

Provincial Medical Genetics Department, Las Tunas, Cuba.

Introduction: INTRODUCTION Genodermatoses are a group of genetic diseases that affect the skin and adjoining tissues. They represent 15% of genetic diseases worldwide. Cuba established a National Program for the Diagnosis, Care and Prevention of Genetic Diseases and Congenital Abnormalities in 1980, which was implemented in Las Tunas in 1989. Read More

Blood 2021 May 11. Epub 2021 May 11.

Centre de Recherche en Cancérologie de Marseille - Inserm U1068, CNRS UMR7258, Aix-Marseille Université, Institut Paoli-Calmettes, Marseille, France.

Systemic mastocytosis (SM) is a KIT-driven hematopoietic neoplasm characterized by the excessive accumulation of neoplastic mast cells (MCs) in various organs and, mainly, the bone marrow (BM). Multiple genetic and epigenetic mechanisms contribute to the onset and severity of SM. However, little is known to date about the metabolic underpinnings underlying SM aggressiveness, which has thus far impeded the development of strategies to leverage metabolic dependencies when existing KIT-targeted treatments fail. Read More

Curr Allergy Asthma Rep 2021 May 10;21(5):33. Epub 2021 May 10.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 9000 Rockville Pike, Building 29B, Room 5NN18, MSC 1889, Bethesda, MD, 20892, USA.

Purpose Of Review: Hereditary alpha-tryptasemia (HαT) is an autosomal dominant genetic trait and a common cause of elevated basal serum tryptase in Western populations. It is a risk factor for severe anaphylaxis among individuals with venom allergy and an established modifier of anaphylaxis and mast cell mediator-associated symptoms among patients with systemic mastocytosis. Understanding the physiology of tryptases and how this may relate to the clinical features associated with HαT is the first step in identifying optimal medical management and targets for novel therapeutics. Read More

J Allergy Clin Immunol Pract 2021 May 26. Epub 2021 May 26.

Department of Dermatology and Allergy, Technical University of Munich, School of Medicine, Munich, Germany.

Background: Mastocytosis comprises a heterogeneous group of disorders characterized by an accumulation of mast cells in 1 or more organs. Symptoms range from mild complaints to severe and life-threatening events. Impact on quality of life seems to vary widely, but influencing factors are poorly understood so far. Read More

J Allergy Clin Immunol 2021 May 4. Epub 2021 May 4.

Department of Basic and Translational Sciences, University of Pennsylvania, School of Dental Medicine, Philadelphia, Pa. Electronic address:

Cutaneous mast cells (MCs) express Mas-related G protein-coupled receptor-X2 (MRGPRX2; mouse ortholog MrgprB2), which is activated by an ever-increasing number of cationic ligands. Antimicrobial host defense peptides (HDPs) generated by keratinocytes contribute to host defense likely by 2 mechanisms, one involving direct killing of microbes and the other via MC activation through MRGPRX2. However, its inappropriate activation may cause pseudoallergy and likely contribute to the pathogenesis of rosacea, atopic dermatitis, allergic contact dermatitis, urticaria, and mastocytosis. Read More

Blood 2021 May;137(18):2564

Hôpitaux Civils de Colmar.

Allergy 2021 May 6. Epub 2021 May 6.

Division of Immunology and Allergy, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

Mast cells are (in)famous for their role in allergic diseases, but the physiological and pathophysiological roles of this ingenious cell are still not fully understood. Mast cells are important for homeostasis and surveillance of the human system, recognizing both endogenous and exogenous agents, which induce release of a variety of mediators acting on both immune and non-immune cells, including nerve cells, fibroblasts, endothelial cells, smooth muscle cells, and epithelial cells. During recent years, clinical and experimental studies on human mast cells, as well as experiments using animal models, have resulted in many discoveries that help decipher the function of mast cells in health and disease. Read More

Nat Commun 2021 05 5;12(1):2527. Epub 2021 May 5.

Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD, USA.

Osteoporosis and other manifestations of bone disease are frequent in patients with systemic mastocytosis (SM) in association with the presence of mast cell infiltrates in bone marrow, although the mechanisms behind bone disease remain poorly understood. We find that extracellular vesicles (EVs) released by neoplastic mast cells and present in the serum of patients with SM (SM-EVs) block osteoblast differentiation and mineralization in culture, and when injected into mice diminish the expression of osteoblast markers, and trabecular bone volume and microarchitecture. We demonstrate that miRNA-30a and miRNA-23a, increased in SM-EVs and neoplastic mast cell-derived EVs, attenuate osteoblast maturation by suppressing expression of RUNX2 and SMAD1/5, essential drivers of osteogenesis. Read More

Allergy 2021 May 5. Epub 2021 May 5.

Division of Allergology and Clinical Immunology, University Medical Center Groningen, Groningen, The Netherlands.

Mol Cancer Ther 2021 May 4. Epub 2021 May 4.

Deciphera Pharmaceuticals, LLC, Waltham, Massachusetts.

The majority of gastrointestinal stromal tumors (GIST) harbor constitutively activating mutations in KIT tyrosine kinase. Imatinib, sunitinib, and regorafenib are available as first-, second-, and third-line targeted therapies, respectively, for metastatic or unresectable KIT-driven GIST. Treatment of patients with GIST with KIT kinase inhibitors generally leads to a partial response or stable disease but most patients eventually progress by developing secondary resistance mutations in KIT. Read More

J Clin Med 2021 Apr 2;10(7). Epub 2021 Apr 2.

"Carol Davila" University of Medicine and Pharmacy, 030167 Bucharest, Romania.

Mastocytosis (M) represents a systemic pathology characterized by increased accumulation and clonal proliferation of mast cells in the skin and/or different organs. Broadly, M is classified into two categories: Cutaneous mastocytosis (CM) and systemic mastocytosis (SM). In children, CM is the most frequent form. Read More

J Clin Med 2021 Apr 1;10(7). Epub 2021 Apr 1.

Gruppo Interdisciplinare per lo Studio della Mastocitosi (GISM), Azienda Ospedaliera Universitaria Integrata di Verona, 37134 Verona, Italy.

Bone marrow mastocytosis (BMM) represents a provisional, indolent subvariant of systemic mastocytosis (SM). Utilizing WHO criteria, BMM requires bone marrow (BM) involvement and the absence of mastocytosis skin lesions. BMM is characterized by male sex prevalence, a slight increase of serum tryptase levels, low BM mast cells (MC) burden, and an indolent clinical course. Read More

Parasite Immunol 2021 Apr 29:e12840. Epub 2021 Apr 29.

Laboratory of Cell Biology and Microbiology, Academic Unit of Biological Sciences, Autonomous University of Zacatecas, Zacatecas, México.

Background: The immune response during T spiralis infection is characterized by an increase in eosinophils and mast cells, as well as Th2 cytokine production, such as interleukin (IL)-4, IL-10 and IL-13, promoting T spiralis expulsion from the host. However, this response damages the host, favouring the parasite survival. In the search for new pharmacological strategies that protect against T spiralis infection, a recent study showed that treatment with resiniferatoxin (RTX) modulates the Th1 cytokines production, reducing muscle parasite burden. Read More

Int J Dermatol 2021 Apr 27. Epub 2021 Apr 27.

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

Background: Mastocytosis is a heterogeneous group of myeloproliferative disorders characterized by accumulation of clonal mast cells in various tissues. The aim of this study was to determine the symptoms evolution and outcome after 10 years observation.

Methods: Fifty-five children with mastocytosis were included in the study group and monitored concerning mast cell mediator-related symptoms (MC MRSs) and clinical course of the disease for a period of ≥10 years. Read More

Actas Dermosifiliogr 2021 Apr 24. Epub 2021 Apr 24.

Servicio de Dermatología, Hospital Clínico San Carlos, Madrid, España.

Semin Cancer Biol 2021 Apr 22. Epub 2021 Apr 22.

Department of Hematology, Oncology and Tumor Immunology, Charité University Medicine Berlin, Campus Virchow Clinic, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address:

Myeloid malignancies have always been at the forefront of an improved understanding of the molecular pathogenesis of cancer. In accordance, over the last years, basic research focusing on the aberrations underlying malignant transformation of myeloid cells has provided the basis for precision medicine approaches and subsequently has led to the development of powerful therapeutic strategies. In this review article, we will recapitulate what has happened since in the 1980s the use of all-trans retinoic acid (ATRA), as a first targeted cancer therapy, has changed one of the deadliest leukemia subtypes, acute promyelocytic leukemia (APL), into one that can be cured without classical chemotherapy today. Read More

J Allergy Clin Immunol 2021 Apr 22. Epub 2021 Apr 22.

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

Background: Mastocytosis is a risk factor for hymenoptera venom anaphylaxis (HVA). Current guidelines recommend measuring tryptase in patients with HVA and that those with mastocytosis pursue lifelong venom immunotherapy (VIT). Available data on HVA and mastocytosis largely derive from European single-center studies, and the prevalence of HVA with and without mastocytosis in the United States is unknown. Read More