Phenotypic and Genotypic Characteristics of Mastocytosis According to the Age of Onset
نویسندگان
چکیده
Adult's mastocytosis is usually associated with persistent systemic involvement and c-kit 816 mutation, while pediatrics disease is mostly limited to the skin and often resolves spontaneously. We prospectively included 142 adult patients with histologically proven mastocytosis. We compared phenotypic and genotypic features of adults patients whose disease started during childhood (Group 1, n = 28) with those of patients whose disease started at adult's age (Group 2, n = 114). Genotypic analysis was performed on skin biopsy by sequencing of c-kit exons 17 and 8 to 13. According to WHO classification, the percentage of systemic disease was similar (75 vs. 73%) in 2 groups. C-kit 816 mutation was found in 42% and 77% of patients in groups 1 and 2, respectively (p<0.001). 816 c-kit mutation was associated with systemic mastocytosis in group 2 (87% of patients with systemic mastocytosis vs. 45% with cutaneous mastocytosis, p = 0.0001). Other c-kit activating mutations were found in 23% of patients with mastocytosis' onset before the age of 5, 0% between 6 and 15 years and 2% at adults' age (p<0.001). In conclusion, pathogenesis of mastocytosis significantly differs according to the age of disease's onset. Our data may have major therapeutic relevance when considering c-kit-targeted therapy.
منابع مشابه
Identifying Tomato Wilt disease and Controlling It Using Antagonist Bacteria in East Azerbaijan Province
Bacterial wilt caused by Ralstonia solanacearum is one of the most destructive diseases which negatively affect the tomato production worldwide. Considering the importance of the disease, using biological control agents could be effective approaches in reducing the damage of the pathogen. Tomato samples of suspected bacterial wilt disease were gathered from different regions of East Azarbayjan....
متن کاملPhenotypic and genotypic diversity of dominant lactic acid bacteria isolated from traditional yoghurts produced by tribes of Iran
Morphological, biochemical and molecular characteristics were studied to identify dominant lactic acid bacteria (LAB), isolated from traditional yoghurts produced by tribes of Iran. From 60 yoghurt samples, a total of 137 LAB isolates were determined, in which 66 and 71 were identified as lactic acid cocci and bacilli, respectively. Biochemical tests showed the occurrence of 9.76% mesophilic ho...
متن کاملPhenotypic and Genotypic Characteristics of Methicillin-Resistant Staphylococcus aureus Isolated from Dairy and Meat Products in Iran
Background: Methicillin-Resistant Staphylococcus aureus (MRSA) plays an important role in gastrointestinal diseases. The goal of this research was to determine phenotypic and genotypic characteristics of MRSA isolated from dairy and meat products in Iran. Methods: Ninety-three S. aureus isolates were prepared which had been obtained in our previous study. Antimicrobial susceptibility testing w...
متن کاملGenotypic and phenotypic characterization of enteroaggregative Escherichia coli (EAEC) isolates from diarrheic children: An unresolved diagnostic paradigm exists
Objective(s): The enteroaggregative Escherichia coli (EAEC) has been one of the most intriguing emerging bacterial pathogens in children that occur both in developing countries and the industrial world. Although various phenotypic and genotypic based protocols have been suggested for diagnosis of EAEC, they are not conclusive or practical to be used in most clinical la...
متن کاملEvaluation of Phenotypic and Genotypic Expression of Efflux Pumpin Clinical Isolates of Acinetobacter baumannii Resistant to Ciprofloxacin and Gentamicin
Introduction: Acinetobacter baumannii is an important bacteria because of high ability to obtain antibiotic resistance genes and creation of multi-drug resistant strains (MDR). Today, the active efflux pumps has been suggested as one of the most important mechanisms of intrinsic and acquired resistance of antibiotics in bacteria. The aim of this study was Evaluation of phenotypic and genotypic ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- PLoS ONE
دوره 3 شماره
صفحات -
تاریخ انتشار 2008