Profile of Activation of Tyrosine Kinases and MAP Kinases in Therapy of Maffucci Syndrome

Authors: K. Melichárková 1;  J. Neradil 2,3;  P. Múdrý 1;  K. Zitterbart 1,3;  R. Obermannová 3,5;  J. Skotáková 4;  R. Veselska 1,2;  J. Štěrba 1,3
Authors‘ workplace: Klinika dětské onkologie LF MU a FN Brno 1;  Laboratoř nádorové bio­logie, Ústav experimentální bio­logie, PřF MU, Brno 2;  Regionální centrum aplikované molekulární onkologie, Masarykův onkologický ústav, Brno 3;  Klinika dětské radiologie LF MU a FN Brno 4;  Klinika komplexní onkologické péče, Masarykův onkologický ústav, Brno 5
Published in: Klin Onkol 2015; 28(Supplementum 2): 47-51
doi: 10.14735/amko20152S47


Maffucci 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.

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.

Key words:
enchondromatosis – hemangioma – receptor protein-tyrosine kinases – MAP kinases signaling system – individualized medicine – Maffucci syndrome

This study was supported by the European Regional Development Fund and the State Budget of the Czech Republic – RECAMO, CZ.1.05./2.1.00/03.0101, by the project CEB, OP VK CZ.1.07/2.3.00/20.0183 and by the project MUNI/A/1552/2014.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

18. 4. 2015

26. 6. 2015


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Paediatric clinical oncology Surgery Clinical oncology
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