Liquid Biopsy Promising in Children With Vascular Malformations

Ezra Anpo (right), here with his sister Aria, participated in a research study investigating a liquid biopsy approach to providing a genetic diagnosis in children with lymphatic malformations.
Doctors at Seattle Children’s are investigating whether a simple liquid biopsy containing a small amount of fluid from a patient may someday provide an easier route to a genetic diagnosis in children with vascular or lymphatic malformations.
The work is a collaborative effort led by Dr. James Bennett, a clinical geneticist and co-director of the molecular diagnostic laboratory at Seattle Children’s and Dr. Jonathan Perkins, an otolaryngologist and director of the Seattle Children’s Vascular Anomalies Program. Liquid biopsy offers an alternative to the more invasive surgical biopsies required – when a genetic, or molecular diagnosis, is needed to help guide a patient’s treatment.
“We can now provide a specific genetic diagnosis for a lot of vascular malformations,” Bennett said. “That’s important for families for a variety of reasons with one being it’s just extremely healing and powerful to know the reason why your child has these differences.” Read full post »