Profil aktivace receptorových tyrozinkináz a mitogenem aktivovaných proteinkináz v terapii Maffucciho syndromu
| Title in English | Profile of activation of tyrosine kinases and MAP kinases in therapy of Maffucci syndrome |
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| Authors | |
| Year of publication | 2015 |
| Type | Article in Periodical |
| Magazine / Source | Klinická onkologie |
| MU Faculty or unit | |
| Citation | |
| Doi | http://dx.doi.org/10.14735/amko20152S47 |
| Field | Oncology and hematology |
| Keywords | enchondromatosis; hemangioma; receptor protein-tyrosine kinases; MAP kinases signaling system; individualized medicine; Maff ucci syndrome |
| Description | Background: Maff ucci syndrome is a rare congenital non-hereditary 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 Maff ucci 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, fl uidothorax and ascites. A profi le 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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