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Systemic mastocytosis

Gianluca Bagnato, William Neal Roberts, Davide Sciortino, Donatella Sangari, Santa Cirmi, Roneka L Ravenell, Michele Navarra, Gianfilippo Bagnato, Sebastiano Gangemi
BACKGROUND: Systemic sclerosis (SSc) is a complex autoimmune disease characterized by vascular alterations and autoimmune activation leading to widespread organ fibrosis. At the early stage of disease when organ involvement and extent of disease are emerging, mast cells may have some role, as implied by both symptoms and histologic evidence. CASE PRESENTATION: A female patient diagnosed with cutaneous mastocytosis experienced the onset of systemic sclerosis after 15 years followed by the switch of mastocytosis to the systemic phenotype...
2016: Clinical and Molecular Allergy: CMA
Alexander Zink, Alexander Böhner, Anna Schuch, Tilo Biedermann, Knut Brockow
No abstract text is available yet for this article.
October 13, 2016: Lancet
A Artuso, C Caimmi, G Tripi, O Viapiana, M Bonifacio, L Idolazzi, I Gavioli, D Gatti, R Zanotti, M Rossini
Systemic Mastocytosis has been long identified as a potential cause of osteoporosis; nevertheless, data regarding longitudinal variation of bone mineral density (BMD) in patients with indolent systemic mastocytosis (ISM) are missing . We studied BMD variation at lumbar spine and proximal hip after 30-month (±6 months) follow-up in a large cohort of patients (83) with ISM without osteoporosis, supplementated with vitamin D and/or calcium when needed. We also analyzed the correlation between variation of BMD, basal serum tryptase levels and bone turnover markers (BTM)...
October 14, 2016: Calcified Tissue International
Lanshan Huang, Sa A Wang, Sergej Konoplev, Carlos E Bueso-Ramos, Beenu Thakral, Roberto N Miranda, Elias Jabbour, L Jeffrey Medeiros, Rashmi Kanagal-Shamanna
INTRODUCTION: Well-differentiated systemic mastocytosis (WDSM) is a rare, recently recognized provisional subvariant of systemic mastocytosis (SM). We report a case of WDSM that showed excellent clinical and cutaneous response to imatinib in the absence of known molecular genetic abnormalities. CLINICAL FINDINGS/DIAGNOSES: We present a 24-year-old woman with childhood onset of skin manifestations that progressed to mediator-related systemic events, and a gastrointestinal tract mastocytoma...
October 2016: Medicine (Baltimore)
Zeynep Tamay, Deniz Özçeker
Mastocytosis is a heterogeneous disorder characterized by clonal proliferation and accumulation of mast cells in one of more organs which may lead to different clinical pictures. Pathological increase and activation of mast cells in various tissues can cause different clinical pictures. Cutaneous mastocytosis limited to the skin is the most typical clinical picture observed in children and systemic mastocytosis is very rare in the pediatric age group. The diagnosis of cutaneous mastocytosis is based on clinical findings, but is often delayed due to lack of clinical awareness of the disease and lack of its consideration in the differential diagnosis...
September 2016: Türk Pediatri Arşivi
Maud A W Hermans, Annemiek Broijl, Paul L A van Daele
BACKGROUND: Systemic mastocytosis is a rare myeloproliferative disease characterized by the uncontrolled proliferation of aberrant mast cells. It has varying clinical manifestations. For unknown reasons, pulmonary localization of mastocytosis is extremely rare. CASE PRESENTATION: In this report, we describe a case of a young Caucasian female with systemic mastocytosis who had an associated hematological non-mast-cell lineage disease with pulmonary interstitial disease directly related to her mastocytosis...
October 13, 2016: Journal of Medical Case Reports
Celalettin Ustun, Michel Arock, Hanneke C Kluin-Nelemans, Andreas Reiter, Wolfgang R Sperr, Tracy George, Hans-Peter Horny, Karin Hartmann, Karl Sotlar, Gandhi Damaj, Olivier Hermine, Srdan Verstovsek, Dean D Metcalfe, Jason Gotlib, Cem Akin, Peter Valent
Systemic mastocytosis is a heterogeneous disease characterized by the accumulation of neoplastic mast cells in the bone marrow and other organ organs/tissues. Mutations in KIT, most frequently KIT D816V, are detected in over 80% of all systemic mastocytosis patients. While most systemic mastocytosis patients suffer from an indolent disease variant, some present with more aggressive variants, collectively called "advanced systemic mastocytosis", which include aggressive systemic mastocytosis, systemic mastocytosis with an associated hematologic, clonal non mast cell-lineage disease, and mast cell leukemia...
October 2016: Haematologica
Jatinder Singh, Ramanpreet Shah, Dhandeep Singh
The mast cells are integral part of immune system and they have pleiotropic physiological functions in our body. Any type of abnormal stimuli causes the mast cells receptors to spur the otherwise innocuous mast cells to degranulate and release inflammatory mediators like histamine, cytokines, chemokines and prostaglandins. These mediators are involved in various diseases like allergy, asthma, mastocytosis, cardiovascular disorders, etc. Herein, we describe the receptors involved in degranulation of mast cells and are broadly divided into four categories: G-protein coupled receptors, ligand gated ion channels, immunoreceptors and pattern recognition receptors...
September 29, 2016: International Immunopharmacology
L A Salah, O Ljungberg, Å Svensson
A 6 years old boy was referred to the multidisciplinary Center for Vascular Anomalies in Malmö, Sweden due to a red plaque on his left shoulder since birth. A preliminary diagnosis of hemangioma was previously given to the family but the lesion has not shown any signs of progression or involution. Furthermore, there was no history of a significant change in size or shape. The main complaint, apart from the cosmetic appearance, was itching once in a while. There were no aggravating or relieving factors. There was also no other family member with history of a similar lesion...
September 29, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
H Zaouri, H Amarouch, N Elmakrini, N Tazi, N Ismaili, L Benzekri, K Senouci, B Hassam
Mastocytosis is a group of diseases related to abnormal accumulation and proliferation of mast cells in one or more organs. They may be associated with an acquired point mutation and the activation of the receptor tyrosine-kinase c-KIT of CFS (mast cell growth factor). The clinical manifestations are varied and secondary to the release of mast cell mediators and/or infiltration of various organs. There are two main types of mastocytosis: pure cutaneous mastocytosis and systemic mastocytosis when more than two organs are involved in mast cell infiltration (bone marrow, gastrointestinal tract, bone, liver and spleen, lymph nodes)...
September 23, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Robin R Weidemann, Rayk Behrendt, Kristina B Schoedel, Werner Müller, Axel Roers, Alexander Gerbaulet
Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and, in most cases, is of pro- or pre-B cell origin (B-ALL). The receptor tyrosine kinase KIT is expressed by hematopoietic stem and precursor cells. Gain-of-function mutations of KIT cause systemic mastocytosis, which is characterized by abnormal accumulations of mast cells. We previously reported a mouse model of mastocytosis based on conditional expression of a constitutively active Kit protein. Half of these animals developed leukemic disease of B-lineage origin...
September 21, 2016: Experimental Hematology
Philip R Cohen
BACKGROUND: Mastocytosis is either cutaneous (with skin-limited proliferation of mast cells) or systemic (with mast cells in extracutaneous sites). The onset of solitary mastocytoma in an adult is rare. PURPOSE: A woman with the new onset of solitary mastocytoma is described. The clinical features of patients with adult-onset solitary mastocytoma are summarized. Recommendations for the evaluation and treatment of individuals with adult-onset solitary mastocytoma are proposed...
July 2016: Dermatology Practical & Conceptual
Laura E Brown, Da Zhang, Diane L Persons, Abdulraheem Yacoub, Shivani Ponnala, Wei Cui
Various translocations involving the PDGFRB gene are identified in myeloid neoplasms. However, the PRKG2/PDGFRB fusion gene associated with t(4;5)(q21;q33) has previously been reported in only 3 patients. We present the case of a 26-year-old woman with microcytic anemia, basophilia, thrombocytosis, and massive splenomegaly, who was found to have systemic mastocytosis and associated clonal hematological non-mast cell lineage disease (SM-AHNMD), with myeloid neoplasm with PRKG2/PDGFRB rearrangement. Initial findings included basophilia (37%, 4...
2016: Case Reports in Hematology
Do-Kyun Kim, Michael A Beaven, Joseph M Kulinski, Avanti Desai, Geethani Bandara, Yun Bai, Calman Prussin, Lawrence B Schwartz, Hirsh Komarow, Dean D Metcalfe, Ana Olivera
Neoplastic accumulation of mast cells in systemic mastocytosis (SM) associates with activating mutations in the receptor tyrosine kinase KIT. Constitutive activation of tyrosine kinase oncogenes has been linked to imbalances in oxidant/antioxidant mechanisms in other myeloproliferative disorders. However, the impact of KIT mutations on the redox status in SM and the potential therapeutic implications are not well understood. Here, we examined the regulation of reactive oxygen species (ROS) and of the antioxidant protein DJ-1 (PARK-7), which increases with cancer progression and acts to lessen oxidative damage to malignant cells, in relationship with SM severity...
2016: PloS One
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Cecília Alves, Anabela Neves, Ana Paula Oliveira
Mastocytosis is a clonal neoplastic disorder of the mast cells (MC) that can be limited to the skin (cutaneous mastocytosis) or involve one or more extracutaneous organs (systemic mastocytosis). The clinical manifestations of mastocytosis are heterogeneous ranging from indolent disease with a long-term survival to a highly aggressive neoplasm with survival of about 6 mo. Although liver involvement in aggressive systemic mastocytosis (ASM) is relatively common, the development of portal hypertension with or without cirrhosis is rare...
July 28, 2016: World Journal of Gastroenterology: WJG
Arnaud Payerols, Eric Frouin, Aurélie Schiffmann, Nicolas Menjot de Champfleur, Danielle Canioni, Olivia Chandesris, Valérie Costes, Max Villain, Frédéric Mura
PURPOSE: Mastocytosis is characterized by clonal mast cell proliferation with accumulation within various organs and uncontrolled activation with excessive mast cell mediator release. Ocular manifestations have rarely been published. We describe a 63-year-old man with bilateral exophthalmos that led to the diagnosis of systemic mastocytosis. CASE REPORT: A patient presented with bilateral eyelid edema with exophthalmos associated with binocular diplopia. Ophthalmologic examination showed bilateral axial, symmetrical, and painless exophthalmos with eyelid edema, and limitation in elevation of the right eye...
August 24, 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
Ayesha Abid, Michael A Malone, Katherine Curci
Mastocytosis is a rare disease caused by excessive production of mast cells. Clinical presentation is variable, often based on the type of mastocytosis, but in all types of mastocytosis there seems to be an increase in the risk of anaphylaxis. Systemic mastocytosis is diagnosed based on bone marrow biopsy. Treatment is variable based on the type of mastocytosis, but trigger avoidance and anaphylaxis treatment are mainstays. There are no therapies that change the natural course of mastocytosis. For cutaneous mastocytosis, treatment is conservative and aimed at symptom relief...
September 2016: Primary Care
Celalettin Ustun, Elizabeth L Courville
No abstract text is available yet for this article.
April 7, 2016: Blood
Li-Tzong Chen, Chiung-Tong Chen, Weir-Torn Jiaang, Tsai-Yun Chen, Joseph H Butterfield, Neng-Yao Shih, John Tsu-An Hsu, Hui-You Lin, Sheng-Fung Lin, Hui-Jen Tsai
Acute myelogenous leukemia (AML) carrying t(8;21)(q22;q22) or inv(16)/t(16;16)(p13;q22) is classified as core binding factor (CBF)-AML and accounts for approximately 15% of AML. c-KIT mutation can be detected in 17%∼46% of CBF-AML and is associated with poor prognosis. c-KIT mutation is a crucial hit and cooperates with AML1-ETO resulting from t(8;21)(q22;q22) to cause overt AML. Tyrosine kinase inhibitors (TKI) targeting c-KIT, such as imatinib, has been used successfully to treat c-KIT driven gastrointestinal stromal tumors...
October 2016: Molecular Cancer Therapeutics
Nikhil Rabade, Prashant Tembhare, Nikhil Patkar, Pratibha Amare, Brijesh Arora, P G Subramanian, Sumeet Gujral
Systemic mastocytosis (SM) with associated clonal nonmast cell lineage disease is seen in up to 20% cases of SM. SM is uncommon in the pediatric population. T (8; 21) (q22; q22) is a good prognostic factor in acute myeloid leukemia (AML). However, the presence of SM confers poor prognosis in t (8; 21) (q22; q22) associated AML. We report the case of a child with t (8; 21) (q22; q22) associated AML with SM and her minimal residual disease status over the course of her treatment. In our case, the abnormal mast cells, showing co-expression of CD25 and CD2, persisted even after the marrow showed no evidence of residual AML...
July 2016: Indian Journal of Pathology & Microbiology
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