Next generation sequencing can detect actionable variants to provide targeted therapies for patients with vascular anomalies, according to research presented at the 2021 American Society of Pediatric Hematology/Oncology (ASPHO) meeting.

Somatic mutations in cancer genes lead to many vascular anomalies. Researchers at Boston Children’s Hospital sought to determine whether next generation sequencing could aid in establishing a genetic diagnosis and apply targeted therapies to patients with vascular anomalies.

The researchers used OncoPanel, a sequencing test used for cancer, to look for genetic variants in lesional tissue from vascular anomalies in 137 patients. A total of 80 patients had an actionable genetic variants. Of these, 18 patients in the cohort were treated with targeted therapies based on their genetic diagnosis, with many more waiting to enroll in clinical trials.

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A total of 11 patients had an unknown diagnosis before testing, and a genetic mutation was found in 6 of them. Additionally, 61 patients had mutations in PIK3CA.

Clinical trials in vascular anomalies are increasing, and next generation sequencing holds promise to improve treatment with targeted therapies. Results showed next generation sequencing could also identify patients who may have a germline cancer predisposition.

Improved diagnostic testing with next generation sequencing could lead to expanded treatment options in patients with vascular anomalies.

Disclosures: Some authors have declared affiliations with or received grant support from the pharmaceutical industry. Please refer to the original study for a full list of disclosures.


Eng W, Dilek S, Ward A, et al. Diagnostic utility of target next generation sequencing in vascular anomalies. Paper presented at: 2021 American Society of Pediatric Hematology/Oncology meeting; April 21-23, 2021; virtual.