Molecular pathology selected abstracts
November 2020—Sporadic vascular malformations are congenital malformations of arteries, veins, capillaries, or lymphatic vessels, or a combination of these, and are associated with significant morbidity. The majority of them are caused by postzygotic somatic pathogenic variants in oncogenes in the PI3K-MTOR and RAS-MAPK pathways, including within PIK3CA, TEK, MAP2K1, BRAF, and KRAS. Investigators have assessed whether therapeutic agents targeting these pathways should be used to augment or replace traditional surgical management. But because these somatic variants are restricted to cells within the tissue of vascular malformations (VM), it is necessary to conduct genetic testing on the surgically resected tissue to qualify patients for trials of targeted therapies. Approximately 10 percent of cell-free DNA (cfDNA) originates from endothelial cells.