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Activity of a TIE2 inhibitor (rebastinib) in a patient with a life-threatening cervicofacial venous malformation.
Pediatric Blood & Cancer 2023 May 10
Targeted therapy has become the first therapeutic option in many patients with vascular anomalies. A male 28-year-old patient presented a severe cervicofacial venous malformation involving half-lower face, anterior neck, and oral cavity with progression despite multiple previous treatments, with a somatic variant in TEK (endothelial-specific protein receptor tyrosine kinase) (c.2740C>T; p.Leu914Phe). The patient had facial deformity, daily episodes of pain and inflammation needing massive amount of medication, and difficulty in speech and swallowing, so rebastinib (a TIE2 kinase inhibitor) was approved for compassionate use. After 6 months of treatment, venous malformation had decreased in size and lightened, as well as improved quality-of-life scores.
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