Treatment for children with rare cancer-related genetic diseases

PDGF are growth factors that stimulate cell proliferation through a cell surface receptor. Mutations in this receptor were identified in two cancer-related diseases of childhood: familial infantile myofibromatosis and overgrowth syndrome. A research project at the de Duve Institute, led by Florence Arts and Jean-Baptiste Demoulin, has now deciphered the mechanism by which mutated PDGF receptors trigger these two pathologies. They also demonstrate that these mutants can be blocked by drugs that are currently used to treat leukemia. The findings pave the way for the treatment of severe cases of familial infantile myofibromatosis and overgrowth syndrome.

Article describing this research

PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.

Arts FA, Chand D, Pecquet C, Velghe AI, Constantinescu S, Hallberg B, Demoulin JB.

Oncogene. (2016), 35(25):3239-48