نتایج جستجو برای: systemic mastocytosis

تعداد نتایج: 175955  

Journal: :Acta dermato-venereologica 2014
Line Kibsgaard Tina Skjold Mette Deleuran Christian Vestergaard

2015
Rumyana Yankova Tsvetana Abadjieva Veselin Belovezhdov

BACKGROUND Mastocytosis is a rare disorder with diverse clinical manifestations. In cutaneous mastocytosis the mast cell infiltration is limited to the skin, but is often associated with systemic symptoms due to the release of mast cell mediators. CASE REPORT We report a 6-month-old male infant who had skin lesions of various morphologies (macules, papules, plaques, and nodules) and sizes, pe...

2013
Almudena Matito José Mario Morgado Iván Álvarez-Twose Laura Sánchez-Muñoz Carlos Eduardo Pedreira María Jara-Acevedo Cristina Teodosio Paula Sánchez-López Elisa Fernández-Núñez Ricardo Moreno-Borque Andrés García-Montero Alberto Orfao Luis Escribano

BACKGROUND Serum baseline tryptase (sBT) is a minor diagnostic criterion for systemic mastocytosis (SM) of undetermined prognostic impact. We monitored sBT levels in indolent SM (ISM) patients and investigated its utility for predicting disease behaviour and outcome. METHODS In total 74 adult ISM patients who were followed for ≥48 months and received no cytoreductive therapy were retrospectiv...

Journal: :PLoS ONE 2008
Olivier Hermine Olivier Lortholary Phillip S. Leventhal Adeline Catteau Frédérique Soppelsa Cedric Baude Annick Cohen-Akenine Fabienne Palmérini Katia Hanssens Ying Yang Hagay Sobol Sylvie Fraytag David Ghez Felipe Suarez Stéphane Barete Philippe Casassus Beatrice Sans Michel Arock Jean Pierre Kinet Patrice Dubreuil Alain Moussy

BACKGROUND Indolent forms of mastocytosis account for more than 90% of all cases, but the types and type and severity of symptoms and their impact on the quality of life have not been well studied. We therefore performed a case-control cohort study to examine self-reported disability and impact of symptoms on the quality of life in patients with mastocytosis. METHODOLOGY/PRINCIPAL FINDINGS In...

2014
Bei Jin Ke Ding Jingxuan Pan

Gain-of-function mutations of membrane receptor tyrosine kinase KIT, especially gatekeeper D816V point mutation in KIT, render kinase autoactivation, disease progression, and poor prognosis. D816V KIT is found in approximately 80% of the patients with systemic mastocytosis, and is resistant to the first and second generations of tyrosine kinase inhibitors (TKI). The purpose of this investigatio...

2010

Diagnosis of systemic mastocytosis (SM) is mainly based on the morphological demonstration of compact mast cell infiltrates in various tissue sites. In almost all patients such infiltrates are detected in the bone marrow. Reliable immunohistochemical markers for the diagnosis and grading of SM have been established, but various differential diagnoses including myeloproliferative neoplasms, baso...

Journal: :Molecular cancer therapeutics 2014
Bei Jin Ke Ding Jingxuan Pan

Gain-of-function mutations of membrane receptor tyrosine kinase KIT, especially gatekeeper D816V point mutation in KIT, render kinase autoactivation, disease progression, and poor prognosis. D816V KIT is found in approximately 80% of the patients with systemic mastocytosis, and is resistant to the first and second generations of tyrosine kinase inhibitors (TKI). The purpose of this investigatio...

Journal: :Blood 2006
Neil P Shah Francis Y Lee Roger Luo Yibin Jiang Marjolein Donker Cem Akin

Mastocytosis is associated with an activating mutation in the KIT oncoprotein (KITD816V) that results in autophosphorylation of the KIT receptor in a ligand-independent manner. This mutation is inherently resistant to imatinib and, to date, there remains no effective curative therapy for systemic mastocytosis associated with KITD816V. Dasatinib (BMS-354825) is a novel orally bioavailable SRC/AB...

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