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Next-generation sequencing identifies double oncogene variants in vascular anomalies, suggesting clinical significance for treatment decisions.
We performed deep next-generation sequencing using a 55-gene panel in 590 affected tissue samples from 549 patients referred for various cutaneous birthmarks, mostly vascular anomalies. We confirm that double variants in tissue from vascular anomalies are a rare event. We report the clinical features of eight patients with double variants and discuss their clinical significance and impact on treatment options.
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Kuentz et al. (2025) studied this question.
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