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Association of PDGFRB mutations with pediatric myofibroma and myofibromatosis

JAMA Aug 21, 2019

Dachy G, de Krijger RR, Fraitag S, et al. - Researchers examined the frequency of PDGFRB mutations in sporadic solitary myofibroma and multifocal myofibromatosis. Further, they sought the implications of these mutations in clinical management. They performed an international study of 69 patient samples (mean age 7.8 [12.7] years, 60 children [{87%; 29 girls {48%}] and 9 adults [13%; 4 women {44%}]) and identified activating PDGFRB mutations in children and infants but not adults. Observations suggest a strong correlation of the presence of mutations with multicentric disease. Most PDGFRB mutations were sensitive to the tyrosine kinase inhibitor imatinib. This indicates that these were attractive therapeutic targets.
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