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Mastocytosis

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https://www.readbyqxmd.com/read/28424161/response-and-progression-on-midostaurin-in-advanced-systemic-mastocytosis-kit-d816v-and-other-molecular-markers
#1
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/28408849/a-retrospective-epidemiological-study-of-skin-diseases-among-pediatric-population-attending-a-tertiary-dermatology-referral-center-in-northern-greece
#2
Efstratios Vakirlis, Grigorios Theodosiou, Zoe Apalla, Michael Arabatzis, Elizabeth Lazaridou, Elena Sotiriou, Aimilios Lallas, Demetrios Ioannides
BACKGROUND: The incidence of skin diseases in children is influenced by hereditary, social, and environmental factors. The objective of this study was to determine the incidence of pediatric dermatoses at a University Hospital in Northern Greece. PATIENTS AND METHODS: We reviewed epidemiologic data of 940 patients, aged 0-18 years, who were referred to the outpatient clinic of a University Hospital between January 2013 and December 2015. Demographic data and the frequency of the various diagnoses in various age groups were studied...
2017: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/28408397/the-il-31-il-31-receptor-axis-general-features-and-role-in-tumor-microenvironment
#3
REVIEW
Elisa Ferretti, Anna Corcione, Vito Pistoia
IL-31 is a recently identified cytokine with a well-defined role in the pathogenesis of pruritus. IL-31, whose production is induced by IL-4 and IL-33, binds a heterodimeric receptor (R) composed of the exclusive IL-31RA chain and the shared oncostatin M R. Signaling through the IL-31R involves the MAPK, PI3K/AKT and Jak/STAT pathways. Different variants and isoforms of IL-31RA with different signaling activities have been identified. IL-31 is produced predominantly by circulating Th2 lymphocytes and skin-homing CLA(+)CD45RO(+) T cells...
April 13, 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/28401108/a-case-of-lymphocytic-variant-hypereosinophilic-syndrome-with-sub-diagnostic-systemic-mastocytosis
#4
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
#5
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/28386107/constitutively-active-abl-family-kinases-tel-abl-and-tel-arg-harbor-distinct-leukemogenic-activities-in-vivo
#6
A Yokota, H Hirai, T Shoji, T Maekawa, K Okuda
ABL (ABL1) and ARG (ABL2) are highly homologous to each other in overall domain structure and amino acid sequence, with the exception of their C-termini. As with ABL, translocations that fuse ARG to ETV6/TEL have been identified in patients with leukemia. To assess the in vivo leukemogenic activity of constitutively active ABL and ARG, we generated a bone marrow (BM) transplantation model using the chimeric forms TEL/ABL and TEL/ARG, which have comparable kinase activities. TEL/ABL rapidly induced fatal myeloid leukemia in recipient mice, whereas recipients of TEL/ARG-transduced cells did not develop myeloid leukemia; instead, they succumbed to a long-latency infiltrative mastocytosis that could be adoptively transferred to secondary recipients...
April 7, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28382662/successful-targeted-treatment-of-mast-cell-activation-syndrome-with-tofacitinib
#7
Lawrence B Afrin, Roger W Fox, Susan L Zito, Leo Choe, Sarah C Glover
Mast cell (MC) activation syndrome (MCAS) is a collection of illnesses of inappropriate MC activation with little to no neoplastic MC proliferation, distinguishing it from mastocytosis. MCAS presents as chronic, generally inflammatory multisystem polymorbidity likely driven in most by heterogeneous patterns of constitutively activating mutations in MC regulatory elements, posing challenges for identifying optimal mutation-targeted treatment in individual patients. Targeting commonly affected downstream effectors may yield clinical benefit independent of upstream mutational profile...
April 6, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28369700/in-utero-presentation-of-aggressive-systemic-mastocytosis-in-a-neonate
#8
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
#9
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
#10
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/28332308/ceacam1-long-isoform-has-opposite-effects-on-the-growth-of-human-mastocytosis-and-medullary-thyroid-carcinoma-cells
#11
Chiyuki Ueshima, Tatsuki R Kataoka, Yusuke Takei, Masahiro Hirata, Akihiko Sugimoto, Mitsuyoshi Hirokawa, Yoshimichi Okayama, Richard S Blumberg, Hironori Haga
Carcinoembryonic antigen-related cell adhesion molecule 1 (CEACAM1) is expressed in a number of tumor cell types. The immunoreceptor tyrosine-based inhibitory motif (ITIM)-containing isoforms of this molecule which possess a long cytoplasmic tail (CEACAM1-L) generally play inhibitory roles in cell function by interacting with Src homology 2 domain-containing tyrosine phosphatase (SHP)-1 and/or SHP-2. Src family kinases (SFKs) are also known to bind to and phosphorylate CEACAM1-L isoforms. Here, we report that CEACAM1 was uniquely expressed at high levels in both human neoplastic mast cells (mastocytosis) and medullary thyroid carcinoma cell (MTC) lines, when compared with their expression in nonneoplastic mast cells or nonneoplastic C cells...
April 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28328617/cutaneous-mastocytosis-with-atypical-mast-cells-in-a-7-year-old-girl
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
https://www.readbyqxmd.com/read/28229176/denosumab-for-the-treatment-of-mastocytosis-related-osteoporosis-a-case-series
#20
Giovanni Orsolini, Irene Gavioli, Gaia Tripi, Ombretta Viapiana, Davide Gatti, Luca Idolazzi, Roberta Zanotti, Maurizio Rossini
The purpose of this study was to investigate the therapeutic effect of denosumab, an anti-RANKL monoclonal antibody for the treatment of bone loss in indolent systemic mastocytosis (ISM) patients intolerant to bisphosphonates. Four patients underwent upon informed consent a treatment with denosumab 60 mg administered subcutaneously every 6 months with the same regimen used for postmenopausal osteoporosis. Bone mineral density (BMD) was measured at lumbar and femoral sites at baseline and after 1 year. C-terminal telopeptide of collagen type I (CTX), bone alkaline phosphatase (bALP) and tryptase serum level were determined at baseline and after 12 months with fasting blood samples withdrawals...
February 22, 2017: Calcified Tissue International
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