keyword
https://read.qxmd.com/read/38534884/factor-vii-deficiency-in-systemic-mastocytosis-with-an-associated-myeloid-neoplasm
#1
Giorgio Rosati, Sofia Camerlo, Alessandro Fornari, Valerio Marci, Barbara Montaruli, Alessandro Morotti
Factor VII (FVII) deficiency is a rare bleeding disorder that can be classified as congenital or acquired, and the majority of acquired cases are due to vitamin K deficiency or liver disease. Isolated acquired FVII deficiency is a rare occurrence and has been associated with inhibitors or auto-antibodies. Here, we describe a patient with polycythemia vera who developed systemic mastocytosis and FVII deficiency simultaneously. FVII deficiency was not caused by inhibitors and improved with antineoplastic treatment...
March 12, 2024: Hematology Reports
https://read.qxmd.com/read/38483409/systemic-mastocytosis-dying-or-survivin
#2
EDITORIAL
Joakim S Dahlin, Gunnar Nilsson
No abstract text is available yet for this article.
March 14, 2024: Blood
https://read.qxmd.com/read/38472477/allogeneic-haematopoietic-cell-transplantation-for-advanced-systemic-mastocytosis-best-practice-recommendations-on-behalf-of-the-ebmt-practice-harmonisation-and-guidelines-committee
#3
REVIEW
Donal P McLornan, Tomasz Czerw, Gandhi Damaj, Mark Ethell, Carmelo Gurnari, Juan Carlos Hernández-Boluda, Nicola Polverelli, Juliana Schwaab, Katja Sockel, Greco Raffaella, Francesco Onida, Isabel Sánchez-Ortega, Giorgia Battipaglia, Chiara Elena, Jason Gotlib, Andreas Reiter, Julien Rossignol, Celalettin Ustun, Peter Valent, Ibrahim Yakoub-Agha, Deepti H Radia
Systemic Mastocytosis (SM) is a multifaceted clinically heterogeneous disease. Advanced SM (AdvSM) comprises three entities: aggressive SM (ASM), mast cell leukaemia (MCL) and SM with an associated hematologic neoplasm (SM-AHN), the latter accounting for 60-70% of all AdvSM cases. Detection of a disease-triggering mutation in the KIT gene (esp. KIT D816V) in >90% of the patients with ASM or SM-AHN has led to a significant improvement in therapeutic options by the implementation of two KIT-targeting kinase inhibitors: midostaurin and avapritinib...
March 12, 2024: Leukemia
https://read.qxmd.com/read/38471752/splinter-haemorrhages-in-a-patient-with-systemic-mastocytosis-and-hypereosinophilia
#4
JOURNAL ARTICLE
Mar Rodríguez-Troncoso, José María Llamas-Molina, Alberto Benavente-Fernández, María Narváez-Simón, Ricardo Ruiz-Villaverde
No abstract text is available yet for this article.
March 12, 2024: British Journal of Haematology
https://read.qxmd.com/read/38471404/aggressive-systemic-mastocytosis-with-the-co-occurrence-of-prkg2-pdgfrb-kat6a-ncoa2-and-rxra-notch1-fusion-transcripts-and-a-heterozygous-runx1-frameshift-mutation
#5
JOURNAL ARTICLE
M Poscente, D Tolomeo, A Arshadi, A Agostini, A L'Abbate, A G Solimando, O Palumbo, M Carella, P Palumbo, T González, J M Hernández-Rivas, L Bassi, R Isidori, M Dell'Aquila, G Trapè, R Latagliata, G Pessina, F Natoni, C T Storlazzi
Systemic mastocytosis (SM) is a myeloproliferative neoplasm displaying abnormal mast cell proliferation. It is subdivided into different forms, including aggressive systemic mastocytosis (ASM) and systemic mastocytosis with an associated hematologic neoplasm (SM-AHN). Oncogenic genetic alterations include point mutations, mainly the KIT D816V, conferring poor prognosis and therapy resistance, and fusion genes, with those involving PDGFRA/PDGFRB as the most recurrent events. We here describe an ASM case negative to the KIT D816V and JAK2 V617F alterations but showing a RUNX1 frameshift heterozygous mutation and the co-occurrence of three fusion transcripts...
March 7, 2024: Cancer Genetics
https://read.qxmd.com/read/38460022/alpha-tryptase-as-a-risk-modifying-factor-for-mast-cell-mediated-reactions
#6
REVIEW
Hannah Shin, Jonathan J Lyons
PURPOSE OF REVIEW: To provide an overview on the current understanding of genetic variability in human tryptases and summarize the literature demonstrating the differential impact of mature tryptases on mast cell-mediated reactions and associated clinical phenotypes. RECENT FINDINGS: It is becoming increasingly recognized that tryptase gene composition, and in particular the common genetic trait hereditary alpha-tryptasemia (HαT), impacts clinical allergy...
March 9, 2024: Current Allergy and Asthma Reports
https://read.qxmd.com/read/38448757/allogeneic-hematopoietic-cell-transplantation-in-advanced-systemic-mastocytosis-a-retrospective-analysis-of-the-drst-and-grem-registries
#7
JOURNAL ARTICLE
Johannes Lübke, Deborah Christen, Juliana Schwaab, Anne Kaiser, Nicole Naumann, Khalid Shoumariyeh, Madlen Jentzsch, Katja Sockel, Judith Schaffrath, Francis A Ayuk, Matthias Stelljes, Inken Hilgendorf, Elisa Sala, Jennifer Kaivers, Stefan Schönland, Christoph Wittke, Bernd Hertenstein, Markus Radsak, Ulrich Kaiser, Valeska Brückl, Nicolaus Kröger, Tim H Brümmendorf, Wolf-Karsten Hofmann, Stefan Klein, Edgar Jost, Andreas Reiter, Jens Panse
We identified 71 patients with AdvSM (aggressive SM [ASM], SM with an associated hematologic neoplasm [SM-AHN, e.g., acute myeloid leukemia, SM-AML], mast cell leukemia [MCL]) in two national registries (DRST/GREM) who received an allogeneic hematopoietic cell transplantation (alloHCT) performed in Germany from 1999-2021. Median overall survival (OS) of ASM/SM-AHN (n = 30, 45%), SM-AML (n = 28, 39%) and MCL ± AHN (n = 13, 19%) was 9.0, 3.3 and 0.9 years (P = 0...
March 6, 2024: Leukemia
https://read.qxmd.com/read/38443117/urticaria-pigmentosa-without-pruritus
#8
JOURNAL ARTICLE
William J Nahm, Denise J Corriveau, Chris A Mathe, W Austin Wyant, Carlos Vega, Anita Arthur, K Chris Min
Mastocytosis is a group of disorders characterized by the pathologic accumulation of mast cells in various tissues. One example of mastocytosis is urticaria pigmentosa, which presents with mastocytomas that can cause hives and, when irritated, pruritus. To our knowledge, we are describing the first case of urticaria pigmentosa without pruritus. The patient had a positive Darier's sign, stated that they never felt itchy, and denied ever using a topical steroid or antihistamine. Although our patient declined additional testing, patients like this may benefit from a detailed evaluation of their sensory system through both quantitative sensory testing and genetic analysis...
March 1, 2024: Journal of Drugs in Dermatology: JDD
https://read.qxmd.com/read/38423295/the-prevalence-of-osteoporosis-is-low-in-adult-cutaneous-mastocytosis-patients
#9
JOURNAL ARTICLE
Yannick Degboé, Maella Severino-Freire, Guillaume Couture, Pol-André Apoil, Nicolas Gaudenzio, Olivier Hermine, Adeline Ruyssen-Witrand, Carle Paul, Michel Laroche, Arnaud Constantin, Cristina Bulai Livideanu
BACKGROUND: Systemic mastocytosis (SM) is a clonal disorder of mast cells frequently associated with vertebral osteoporosis (OP) and subsequent vertebral fractures. The natural history of this OP remains unclear. Importantly, we do not know whether OP represents an early event triggered alongside mast cell abnormalities, and whether mast cell clonality is sufficient to trigger osteoporosis. OBJECTIVE: To describe OP in patients with medullar clonality in cutaneous mastocytosis (CM) and monoclonal mast cell activation syndrome (MMAS) and to compare their osteoporosis characteristics to those of non-advanced SM patients (bone marrow mastocytosis (BMM) and indolent systemic mastocytosis (ISM))...
February 27, 2024: Journal of Allergy and Clinical Immunology in Practice
https://read.qxmd.com/read/38423291/safety-of-sting-challenge-test-in-patients-with-clonal-mast-cell-diseases
#10
JOURNAL ARTICLE
Arantza Vega-Castro, Gaspar Dalmau-Duch, Lluís Marquès, David González-de-Olano, Berta Ruiz-León
No abstract text is available yet for this article.
February 27, 2024: Journal of Allergy and Clinical Immunology in Practice
https://read.qxmd.com/read/38405360/a-case-of-indolent-systemic-mastocytosis-responding-to-treatment-with-avapritinib
#11
Terrence Sun, Marin Xavier
Low dose Avapritinib is a new medication that is a potential treatment option not just for advanced systemic mastocytosis, but also for the indolent form.
February 2024: Clinical Case Reports
https://read.qxmd.com/read/38400185/safety-and-tolerability-of-covid-19-vaccine-in-mast-cell-disorders-real-life-data-from-a-single-centre-in-italy
#12
JOURNAL ARTICLE
Stefania Nicola, Marina Mazzola, Luca Lo Sardo, Erika Montabone, Iuliana Badiu, Federica Corradi, Maria Carmen Rita Azzolina, Maurizio Gaspare Dall'Acqua, Giovanni Rolla, Irene Ridolfi, Anna Quinternetto, Luisa Brussino
Background In the past three years, COVID-19 has had a significant impact on the healthcare systems and people's safety worldwide. Mass vaccinations dramatically improved the health and economic damage caused by SARS-CoV-2. However, the safety of COVID-19 vaccines in patients at high risk of allergic reactions still has many unmet needs that should be clarified. Material and methods A retrospective, single-centre study was performed by collecting demographic and clinical data of patients with Mast Cell Disorders (MCDs) to evaluate the safety and tolerability of COVID-19 vaccinations...
February 16, 2024: Vaccines
https://read.qxmd.com/read/38380845/epidemiology-of-mastocytosis-a-population-based-study-sweden
#13
JOURNAL ARTICLE
Anna Bergström, Hans Hägglund, Anders Berglund, Gunnar Nilsson, Mats Lambe
BACKGROUND: Mastocytosis is a disease characterized by accumulation of aberrant mast cells and mediator-related symptoms and is divided into systemic mastocytosis (SM) and cutaneous mastocytosis (CM). The epidemiology of mastocytosis remains incompletely understood. OBJECTIVE: To estimate the incidence, prevalence, overall survival (OS) and burden of comorbidities in adult mastocytosis patients identified in Swedish population-based registries. METHODS: Individuals (≥ 20 years of age) with a mastocytosis diagnosis in the National Patient Register (NPR) and/or the Swedish Cancer Register (SCR) between 2001 and 2018, were identified...
February 21, 2024: Acta Oncologica
https://read.qxmd.com/read/38372648/multicolor-flow-cytometric-immunophenotyping-is-highly-sensitive-and-specific-in-identifying-aberrant-mast-cells-in-the-diagnostic-workup-of-systemic-mastocytosis
#14
JOURNAL ARTICLE
Okechukwu Valentine Nwogbo, Hong Fang, Wei Wang, Jie Xu, Roberto N Miranda, Prithviraj Bose, Chi Young Ok, Jeffrey L Jorgensen, L Jeffrey Medeiros, Sa A Wang
OBJECTIVES: Flow cytometric immunophenotyping (FCI) is a fast and sensitive method for characterizing hematolymphoid neoplasms. It is not widely used in the workup of systemic mastocytosis (SM), in part because of the technical challenges and in part because the utility of FCI in assessing mast cells is not well understood. The objectives of this study were to assess the diagnostic utility of FCI in establishing a diagnosis of SM and distinguishing SM from nonneoplastic mast cells and to examine the immunophenotypic findings among SM subtypes...
February 19, 2024: American Journal of Clinical Pathology
https://read.qxmd.com/read/38339343/poor-applicability-of-currently-available-prognostic-scoring-systems-for-prediction-of-outcome-in-kit-d816v-negative-advanced-systemic-mastocytosis
#15
JOURNAL ARTICLE
Nicole Naumann, Martina Rudelius, Johannes Lübke, Deborah Christen, Jakob Bresser, Karl Sotlar, Georgia Metzgeroth, Alice Fabarius, Wolf-Karsten Hofmann, Jens Panse, Hans-Peter Horny, Nicholas C P Cross, Andreas Reiter, Juliana Schwaab
Within our nationwide registry, we identified a KIT D816V mutation ( KIT D816Vpos.) in 280/299 (94%) patients with advanced systemic mastocytosis (AdvSM). Age, cytopenias and the presence of additional somatic mutations confer inferior overall survival (OS). However, little is known about the characteristics of KIT D816V-negative (D816Vneg. ) AdvSM. In 19 D816Vneg. patients, a combination of clinical, morphological and genetic features revealed three subgroups: (a) KIT D816H- or Y-positive SM ( KIT D816H/Ypos...
January 30, 2024: Cancers
https://read.qxmd.com/read/38338679/diffuse-cutaneous-mastocytosis-a-current-understanding-of-a-rare-disease
#16
REVIEW
Agnieszka Rydz, Magdalena Lange, Hanna Ługowska-Umer, Monika Sikorska, Roman J Nowicki, Cristina Morales-Cabeza, Iván Alvarez-Twose
Mastocytosis is a heterogeneous disease characterized by the expansion and accumulation of neoplastic mast cells in various tissues. Diffuse cutaneous mastocytosis (DCM) is a rare and most severe form of cutaneous mastocytosis, which typically occurs in childhood. There have been reports of a familial DCM with specific gene mutations, indicating both sporadic and hereditary factors involved in its pathogenesis. DCM is associated with severe MC mediator-related symptoms and an increased risk of anaphylaxis. The diagnosis is based on the appearance of skin lesions, which typically show generalized thickening, erythroderma, blistering dermographism, and a positive Darier's sign...
January 23, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38320129/avapritinib-versus-placebo-in-indolent-systemic-mastocytosis
#17
RANDOMIZED CONTROLLED TRIAL
Jason Gotlib, Mariana Castells, Hanneke Oude Elberink, Frank Siebenhaar, Karin Hartmann, Sigurd Broesby-Olsen, Tracy I George, Jens Panse, Iván Alvarez-Twose, Deepti H Radia, Tsewang Tashi, Cristina Bulai Livideanu, Vito Sabato, Mark Heaney, Paul Van Daele, Sonia Cerquozzi, Ingunn Dybedal, Andreas Reiter, Thanai Pongdee, Stéphane Barete, Celalettin Ustun, Lawrence Schwartz, Brant R Ward, Philippe Schafhausen, Peter Vadas, Prithviraj Bose, Daniel J DeAngelo, Lindsay Rein, Pankit Vachhani, Massimo Triggiani, Patrizia Bonadonna, Mark Rafferty, Nauman M Butt, Stephen T Oh, Friederike Wortmann, Johanna Ungerstedt, Mar Guilarte, Minakshi Taparia, Andrew T Kuykendall, Cecilia Arana Yi, Princess Ogbogu, Caroline Gaudy-Marqueste, Mattias Mattsson, William Shomali, Matthew P Giannetti, Ilda Bidollari, Hui-Min Lin, Erin Sulllivan, Brenton Mar, Robyn Scherber, Maria Roche, Cem Akin, Marcus Maurer
Avapritinib in Indolent Systemic MastocytosisIn a randomized trial, patients with indolent systemic mastocytosis were treated with avapritinib or placebo along with supportive care. The trial primary end point was the change in mean total symptom scores at 24 weeks. Avapritinib-treated patients had a decrease in mean total symptom score of 15.6 points compared with 9.2 points in the placebo group.
June 2023: NEJM Evid
https://read.qxmd.com/read/38313964/bullous-mastocytosis-a-rare-variant-of-diffuse-cutaneous-mastocytosis
#18
Shamma Khamis Almheiri, Jaheersha Pakran, Amani Abdulla AlFalasi, Reem El Bahtimi
Mastocytosis is a disease of the mast cells caused by an increase in the number of mast cells due to abnormal proliferation. The disease is associated with a mutation in the c-kit gene, which is a key factor in the development of mast cells. Mastocytosis is classified into two main groups, namely, cutaneous and systemic mastocytosis, based on the site of mast cell accumulation. In cutaneous mastocytosis, the cells purely gather in the skin. In contrast, systemic mastocytosis must affect an internal organ, including the bone marrow, lymph nodes, liver, spleen, and/or the gastrointestinal tract with or without skin involvement...
January 2024: Curēus
https://read.qxmd.com/read/38308674/reversible-elevation-of-tryptase-over-the-individual-s-baseline-why-is-it-the-best-biomarker-for-severe-systemic-mast-cell-activation-and-mcas
#19
REVIEW
Peter Valent, Cem Akin, Michel Arock
PURPOSE OF REVIEW: Mast cell (MC) activation syndromes (MCAS) are conditions defined by recurrent episodes of severe systemic anaphylaxis or similar systemic events triggered by MC-derived mediators that can be measured in biological fluids. Since some symptoms of MC activation may occur due to other, non-MC etiologies and lead to confusion over diagnosis, it is of crucial importance to document the involvement of MC and their products in the patients´ symptomatology. RECENT FINDINGS: The most specific and generally accepted marker of severe systemic MC activation is an event-related, transient increase in the serum tryptase level over the individual baseline of the affected individual...
February 3, 2024: Current Allergy and Asthma Reports
https://read.qxmd.com/read/38303771/a-48-year-old-man-with-a-hip-fracture-and-skin-rash-a-case-report
#20
J Anthony Parker, Runhua Hou
BACKGROUND/OBJECTIVE: Patients with systemic mastocytosis are at high risk of developing osteoporosis and fractures. Herein, we report a case of hip fragility fracture in a patient with indolent systemic mastocytosis and normal bone density. CASE REPORT: A 48-year-old man experienced a left femoral neck fracture after a fall. After a dose of oxycodone/hydromorphone postoperatively, he developed an anaphylactic reaction. Previously, he experienced a few other episodes of flushing, dizziness, and syncope precipitated by stress and alcohol...
2024: AACE Clinical Case Reports
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