Abstract No. 60 Genetic Analysis of Vascular Malformations

Genetic testing is increasingly vital for understanding vascular malformations and guiding targeted therapies. This report presents our initial experience with genetic testing for vascular malformations. A retrospective review of patients with vascular malformations at our institution was performed between January 2022 to August 2023. Patients were offered genetic testing if multiple lesions were identified on imaging or physical exam, the lesion involved over 50% of the extremity, face, or trunk, or if the lesion did not respond to surgery or percutaneous sclerotherapy. The lesions were biopsied with an 18G CR Bard Monopty needle and on average 20 samples obtained. These samples were sent to Seattle Children's hospital for genetic analysis. Genetic analysis was performed by targeted capture using a custom integrated DNA technology panel followed by next generation sequencing with illumina technology. 220 vascular malformations were seen in this time frame. Genetic testing was offered to 20 patients in this time frame of whom 17 consented to analysis. 11 females and 6 males were included in the cohort with an average age 17, range (3 months to 62 years). Eight venous malformations, four lymphatic malformations, and five AVMs were included in the cohort. Venous malformations: 4 TEK, 3 PIK3CA, and 1 RASA1 mutation was identified. The four lymphatic malformations all were positive for the PIK3CA mutation. Arterial venous malformations (AVMs): 2 KRAS, 2 MAP2K1, and 1 PTEN mutation were identified. Two AVM patients were placed on MEK inhibitors and two lymphatic malformation patients were prescribed Piqray (alpelisib) with improvement in symptoms. Genetic mutations are common in patients with multiple and large vascular malformations. Genetic testing offers personalized medicine which can help provide targeted therapies for treatment.