Profil aktivace receptorových tyrozinkináz a mitogenem aktivovaných proteinkináz v terapii Maffucciho syndromu
[Profile of Activation of Tyrosine Kinases and MAP Kinases in Therapy of Maffucci Syndrome]
Jazyk čeština Země Česko Médium print
Typ dokumentu kazuistiky, anglický abstrakt, časopisecké články, práce podpořená grantem
PubMed
26374158
DOI
10.14735/amko20152s47
PII: 55688
- MeSH
- aktivace enzymů MeSH
- dospělí MeSH
- enchondromatóza terapie MeSH
- fosforylace MeSH
- lidé MeSH
- mitogenem aktivované proteinkinasy metabolismus MeSH
- tyrosinkinasy metabolismus MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- mitogenem aktivované proteinkinasy MeSH
- tyrosinkinasy MeSH
BACKGROUND: Maffucci syndrome is a rare congenital nonhereditary disease characterized by multiple hemangiomas and enchondromas, which may progress into malignancy. The causal therapy does not exist, and therapy is aimed at complications. The determination of appropriate therapy is complicated, and a multidisciplinary approach is often essential. CASE: Authors are presenting the case of a 20-year -old patient with Maffucci syndrome. During her life, multiple enchondromas and progressing hemangiomas have been revealed and they have caused many complications, such as limited movement, growth failure, pain, fluidothorax and ascites. A profile of phosphorylation of selected tyrosine kinases and MAP kinases from progressing hemangioma was performed and with consideration of the result, it led to change of treatment strategy with encouraging clinical response lasting for six months.
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