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Systemic mastocytosis

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https://www.readbyqxmd.com/read/28520972/r634w-kit-mutation-in-an-adult-with-systemic-mastocytosis
#1
John M Astle, Michal G Rose, Frederick K Racke, Christopher A Tormey, Alexa J Siddon
Mastocytosis is a clonal neoplasm with the potential to affect various organs within the body. It can range in clinical severity from benign to extremely aggressive. Mastocytosis can be separated into cutaneous, systemic, and leukemic forms, as well as mast-cell sarcoma and extracutaneous mastocytoma. It is most often an acquired condition but can be inherited; the most commonly identified genetic aberrations leading to mastocytosis are activating mutations involving codon 816 of the KIT gene. Herein, we present the case of a 30-year-old Caucasian man with systemic mastocytosis discovered to have a p...
May 18, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/28499778/fatal-anaphylaxis-to-yellow-jacket-stings-in-mastocytosis-options-for-identification-and-treatment-of-at-risk-patients
#2
Byrthe J P R Vos, Bjorn van Anrooij, Jasper J van Doormaal, Anthony E J Dubois, Joanne N G Oude Elberink
BACKGROUND: Patients with indolent systemic mastocytosis (ISM) are at risk for severe anaphylactic reactions to yellow jacket (YJ) stings while demonstration of sensitization can be challenging because specific IgE (sIgE) levels are regularly below 0.35 kUA/L. The implication of missing YJ allergy is illustrated by a case of fatal anaphylaxis. OBJECTIVE: To explore the natural course of YJ venom allergy and the diagnostic accuracy and therapeutic consequence of YJ venom sIgE in patients with ISM...
May 10, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28486845/routine-abdominal-ultrasonography-has-limited-value-in-the-care-for-patients-with-indolent-systemic-mastocytosis
#3
C L de Mol, M A W Hermans, R Gerth van Wijk, P M van Hagen, P L A van Daele
OBJECTIVES: Systemic mastocytosis (SM) is a myeloproliferative disease characterized by the accumulation of aberrant mast cells. Since advanced subtypes of SM can lead to organ dysfunction and shortened survival, timely recognition of progressive disease is important for the adequate treatment of SM patients. METHODS: Here, we report the results of our cohort study on the value of routine abdominal ultrasonography for the detection of progression of indolent systemic mastocytosis (ISM)...
May 10, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28445138/killer-cell-immunoglobulin-like-receptor-2dl4-is-expressed-in-and-suppresses-the-cell-growth-of-langerhans-cell-histiocytosis
#4
Yusuke Takei, Chiyuki Ueshima, Tatsuki R Kataoka, Masahiro Hirata, Akihiko Sugimoto, Mariyo Rokutan-Kurata, Koki Moriyoshi, Kazuo Ono, Ichiro Murakami, Sanju Iwamoto, Hironori Haga
Killer cell immunoglobulin-like receptor (KIR) 2DL4 (CD158d) is a receptor for human leukocyte antigen-G. The function of KIR2DL4 has been reported in human natural killer cell lymphoma and mastocytosis, but not in Langerhans cell histiocytosis (LCH). Herein, we examined the expression and function of KIR2DL4 in LCHs. In pathological specimens, 27 of 36 LCH cases (75.0%) were immunohistochemically positive for KIR2DL4. Its expression was independent of age, gender, location, multi- or single-system, and the status of BRAFV600E immunostaining...
April 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28439288/systemic-mastocytosis-with-kit-v560g-mutation-presenting-as-recurrent-episodes-of-vascular-collapse-response-to-disodium-cromoglycate-and-disease-outcome
#5
Iolanda Conde-Fernandes, Rita Sampaio, Filipa Moreno, José Palla-Garcia, Maria Dos Anjos Teixeira, Inês Freitas, Esmeralda Neves, Maria Jara-Acevedo, Luis Escribano, Margarida Lima
BACKGROUND: Mastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absence of skin lesions, ISMs(-), is a specific subtype indolent SM (ISM), and this clonal MC activation disorder represents a significant fraction of all MC activation syndromes...
2017: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/28432683/prospective-evaluation-of-the-diagnostic-value-of-sensitive-kit-d816v-mutation-analysis-of-blood-in-adults-with-suspected-systemic-mastocytosis
#6
Thomas Kristensen, Hanne Vestergaard, Carsten Bindslev-Jensen, Charlotte Gotthard Mortz, Henrik Fomsgaard Kjaer, Markus Ollert, Michael Boe Møller, Sigurd Broesby-Olsen
BACKGROUND: Sensitive KIT D816V mutation analysis of blood has been proposed to guide bone marrow (BM) investigation in suspected systemic mastocytosis (SM). The aim of this prospective study was for the first time to compare the D816V-status of the "screening blood sample" used to guide BM biopsy in suspected SM to the outcome of the subsequent BM investigation. METHODS: 58 adult patients with suspected SM were included. The outcome of sensitive KIT D816V-analysis of blood was compared to the result of the BM investigation...
April 22, 2017: Allergy
https://www.readbyqxmd.com/read/28424161/response-and-progression-on-midostaurin-in-advanced-systemic-mastocytosis-kit-d816v-and-other-molecular-markers
#7
Mohamad Jawhar, Juliana Schwaab, Nicole Naumann, Hans-Peter Horny, Karl Sotlar, Torsten Haferlach, Georgia Metzgeroth, Alice Fabarius, Peter Valent, Wolf-Karsten Hofmann, Nicholas C P Cross, Manja Meggendorfer, Andreas Reiter
In advanced systemic mastocytosis (advSM), disease evolution is often triggered by activating KIT mutations (D816V in >80% of cases) and by additional mutations, e.g. in SRSF2, ASXL1 and/or RUNX1 (S/A/R(pos), >60% of cases). In a recently reported phase-II-study, midostaurin, a multikinase/KIT inhibitor, demonstrated an overall response rate (ORR) of 60% in advSM but biomarkers predictive of response are lacking. We evaluated the impact of molecular markers (KIT D816V, S/A/R(pos)) at baseline and during follow-up in 38 midostaurin-treated advSM patients...
April 19, 2017: Blood
https://www.readbyqxmd.com/read/28401108/a-case-of-lymphocytic-variant-hypereosinophilic-syndrome-with-sub-diagnostic-systemic-mastocytosis
#8
Preetesh Jain, Sa A Wang, C Cameron Yin, Yasmin Abaza, Srdan Verstovsek, Zeev Estrov
No abstract text is available yet for this article.
March 2017: Blood Research
https://www.readbyqxmd.com/read/28386644/mutational-profiling-in-the-peripheral-blood-leukocytes-of-patients-with-systemic-mast-cell-activation-syndrome-using-next-generation-sequencing
#9
Janine Altmüller, Britta Haenisch, Amit Kawalia, Markus Menzen, Markus M Nöthen, Heide Fier, Gerhard J Molderings
Mast cell activation syndrome (MCAS) and systemic mastocytosis (SM) are two clinical systemic mast cell activation disease variants. Few studies to date have investigated the genetic basis of MCAS. The present study had two aims. First, to investigate whether peripheral blood leukocytes from MCAS patients also harbor somatic mutations in genes implicated in SM using next-generation sequencing (NGS) technology and a relatively large MCAS cohort. We also addressed the question, whether some of the previously as somatic reported mutations are indeed germline mutations...
April 6, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28369700/in-utero-presentation-of-aggressive-systemic-mastocytosis-in-a-neonate
#10
A Huang, N Fiadorchanka, K Brar, J L Balderacchi, S A Glick
Mastocytosis is a clinically heterogenous disease characterized by mast cell hyperplasia in skin, bone marrow, and/or visceral organs. Cutaneous mastocytosis (CM) is more frequently observed in children, while indolent systemic mastocytosis (ISM) is more commonly observed in adults. Aggressive systemic presentation, particularly, of the neonate, is exceptionally rare. We present a rare case of congenital aggressive systemic mastocytosis (ASM). The patient was a 37-week old male, born by Cesarean section due to hepatosplenomegaly and ascites diagnosed in-utero, who exhibited extensive cutaneous and systemic manifestations of mastocytosis at birth...
March 30, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28351827/systemic-mastocytosis-with-associated-chronic-lymphocytic-leukemia-a-matter-of-diseases-or-prognostic-factors
#11
Antonella Zagaria, Luisa Anelli, Nicoletta Coccaro, Giuseppina Tota, Claudia Brunetti, Angela Minervini, Paola Casieri, Luciana Impera, Crescenzio Francesco Minervini, Annamaria Giordano, Paola Orsini, Cosimo Cumbo, Giorgina Specchia, Francesco Albano
No abstract text is available yet for this article.
March 29, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28351784/risk-factor-analysis-of-anaphylactic-reactions-in-patients-with-systemic-mastocytosis
#12
Theo Gülen, Christopher Ljung, Gunnar Nilsson, Cem Akin
BACKGROUND: Systemic mastocytosis (SM) is a rare disorder of abnormal mast cells in at least 1 extracutaneous organ/tissue. Anaphylaxis is an acute, severe systemic hypersensitivity reaction, and a strong association between SM and anaphylaxis has been shown. However, not all patients with SM experience anaphylaxis. Presently, there are no predictive markers to discriminate patients with SM at high risk of anaphylaxis from those at low risk. OBJECTIVE: This study sought to determine risk factors for the occurrence of anaphylaxis in patients with SM...
March 25, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28328617/cutaneous-mastocytosis-with-atypical-mast-cells-in-a-7-year-old-girl
#13
Gabriel Marrero Alemán, Constantin El Habr, Diana Islas Norris, Társila Montenegro Dámaso, Leopoldo Borrego, Omar P Sangueza
Cutaneous mastocytosis is defined by the presence of mast cells within the skin in the absence of other criteria for the diagnosis of systemic mastocytosis. Mast cells are characterized by an abundant granular cytoplasm and a round to oval or spindle-shaped nuclei. The presence of mast cells with bilobed and multilobed nuclei in cutaneous mastocytosis is a rare phenomenon and has been rarely reported in the literature. To our knowledge, there are only 4 reported cases of cutaneous mastocytosis with atypical mast cells...
April 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28286795/systemic-mastocytosis-complicated-by-non-cirrhotic-portal-hypertension-and-variceal-bleeding
#14
Thomas R McCarty, Adelina Hung, Arpan Mohanty, John I Allen
Systemic mastocytosis is a myeloproliferative disorder characterized by extracutaneous involvement of at least one organ. Although rare, infiltration of inflammatory mast cells within the portal vein may lead to obstruction of the sinusoids resulting in non-cirrhotic portal hypertension. We present a patient with known history of systemic mastocytosis with bone marrow involvement presenting with new-onset esophageal variceal bleeding. Although systemic mastocytosis is uncommon, the subsequent development of hepatic involvement and non-cirrhotic portal hypertension are discussed...
2017: ACG Case Reports Journal
https://www.readbyqxmd.com/read/28262030/highly-sensitive-assays-are-mandatory-for-the-differential-diagnosis-of-patients-presenting-with-symptoms-of-mast-cell-activation-diagnostic-work-up-of-38-patients
#15
Bea Van den Poel, Anne-Marie Kochuyt, Elke Del Biondo, Barbara Dewaele, Els Lierman, Thomas Tousseyn, Gert de Hertogh, Peter Vandenberghe, Nancy Boeckx
Mastocytosis is a heterogeneous disease caused by excessive mast cell (MC) proliferation. Diagnosis of systemic mastocytosis (SM) is based on the presence of major and minor criteria defined by the World Health Organization. Symptoms of MC activation can also occur in patients without SM or without allergic or inflammatory disease. These MC activation syndromes (MCAS) can be divided into primary (monoclonal) MCAS (MMAS) vs. secondary and idiopathic MCAS. In this single center study, the diagnostic work-up of 38 patients with a clinical suspicion of SM and/or with elevated basic tryptase levels is presented...
March 6, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/28258965/assessment-of-in-vivo-mast-cell-reactivity-in-patients-with-systemic-mastocytosis
#16
T Gülen, C Möller Westerberg, K Lyberg, M Ekoff, J Kolmert, J Bood, J Öhd, A James, S-E Dahlén, G Nilsson, B Dahlén
BACKGROUND: Patients with systemic mastocytosis (SM) have clinical signs of mast cell (MC) activation and increased levels of MC mediators. It is unclear whether the increased mediator levels are caused by increased numbers of tissue MCs, or whether these cells in affected individuals have a hyperactive phenotype. OBJECTIVE: To determine reactivity of the skin and the airways to directly acting mediators and indirectly acting mast cell secretagogues in subjects with SM...
March 4, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28255023/the-clinical-and-molecular-diversity-of-mast-cell-leukemia-with-or-without-associated-hematologic-neoplasm
#17
Mohamad Jawhar, Juliana Schwaab, Manja Meggendorfer, Nicole Naumann, Hans-Peter Horny, Karl Sotlar, Torsten Haferlach, Karla Schmitt, Alice Fabarius, Peter Valent, Wolf-Karsten Hofmann, Nicholas C P Cross, Georgia Metzgeroth, Andreas Reiter
Mast cell leukemia is a rare variant of advanced systemic mastocytosis characterized by ≥20% mast cells in a bone marrow smear. We evaluated clinical and molecular characteristics of 28 patients with (n=20, 71%) or without an associated hematologic neoplasm. De novo mast cell leukemia was diagnosed in 16/28 (57%) patients and secondary mast cell leukemia evolving from other advanced systemic mastocytosis subtypes in 12/28 (43%) patients, of which 7 patients progressed while on cytoreductive treatment. Median bone marrow mast cell infiltration was 65% and median serum tryptase was 565 microg/L...
March 2, 2017: Haematologica
https://www.readbyqxmd.com/read/28254862/advances-in-the-classification-and-treatment-of-mastocytosis-current-status-and-outlook-toward-the-future
#18
REVIEW
Peter Valent, Cem Akin, Karin Hartmann, Gunnar Nilsson, Andreas Reiter, Olivier Hermine, Karl Sotlar, Wolfgang R Sperr, Luis Escribano, Tracy I George, Hanneke C Kluin-Nelemans, Celalettin Ustun, Massimo Triggiani, Knut Brockow, Jason Gotlib, Alberto Orfao, Lawrence B Schwartz, Sigurd Broesby-Olsen, Carsten Bindslev-Jensen, Petri T Kovanen, Stephen J Galli, K Frank Austen, Daniel A Arber, Hans-Peter Horny, Michel Arock, Dean D Metcalfe
Mastocytosis is a term used to denote a heterogeneous group of conditions defined by the expansion and accumulation of clonal (neoplastic) tissue mast cells in various organs. The classification of the World Health Organization (WHO) divides the disease into cutaneous mastocytosis, systemic mastocytosis, and localized mast cell tumors. On the basis of histomorphologic criteria, clinical parameters, and organ involvement, systemic mastocytosis is further divided into indolent systemic mastocytosis and advanced systemic mastocytosis variants, including aggressive systemic mastocytosis and mast cell leukemia...
March 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28246420/significance-of-cytological-smear-evaluation-in-diagnosis-of-splenic-mast-cell-tumor-associated-systemic-mastocytosis-in-a-cat-felis-catus
#19
Moges Woldemeskel, Anita Merrill, Cindy Brown
An 8-year-old cat was presented with vomiting and weight loss. Histopathology and cytology revealed systemic mastocytosis, a rare condition and a clinical challenge. This case emphasizes the significance of cytological evaluation of smears in diagnosis of mastocytosis and in confirmation in biopsy specimens.
March 2017: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
https://www.readbyqxmd.com/read/28242292/systemic-mastocytosis-kounis-syndrome-and-coronary-intervention-case-report-and-systematic-review
#20
REVIEW
Elizabeth D Paratz, Nancy Khav, Andrew T Burns
A 72-year-old male reported a long-standing history of unexplained syncope. Stress echocardiography demonstrated inducible anterior hypokinesis, and he proceeded to percutaneous coronary intervention for an 80% stenosis of the left anterior descending artery. Thirty minutes post-procedure, he experienced a pulseless electrical activity (PEA) cardiac arrest. Urgent repeat angiography demonstrated profound coronary artery spasm consistent with Kounis syndrome. Three days later, a second PEA arrest occurred. Systemic mastocytosis was ultimately diagnosed as the cause of his recurrent syncopal episodes and cardiac arrests...
February 15, 2017: Heart, Lung & Circulation
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