title: [Profile of Activation of Tyrosine Kinases and MAP Kinases in Therapy of Maffucci Syndrome].
abstract: 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.
  
  
  METHODS
  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.
authors.forename: K
authors.initials: K
authors.lastname: Melichárková
authors.forename: J
authors.initials: J
authors.lastname: Neradil
authors.forename: P
authors.initials: P
authors.lastname: Múdry
authors.forename: K
authors.initials: K
authors.lastname: Zitterbart
authors.forename: R
authors.initials: R
authors.lastname: Obermannová
authors.forename: J
authors.initials: J
authors.lastname: Skotáková
authors.forename: R
authors.initials: R
authors.lastname: Veselská
authors.forename: J
authors.initials: J
authors.lastname: Štěrba
mesh_terms: D000328:Adult; D004687:Enchondromatosis / Q000628:therapy*; D004789:Enzyme Activation; D005260:Female; D006801:Humans; D020928:Mitogen-Activated Protein Kinases / Q000378:metabolism*; D010766:Phosphorylation; D011505:Protein-Tyrosine Kinases / Q000378:metabolism*
chemical_list: D011505:Protein-Tyrosine Kinases; D020928:Mitogen-Activated Protein Kinases