Liquid Biopsy and New Omics Technologies in Vascular Malformations

Vascular malformations are due to congenital anomalies of blood and lymphatic vessels. The knowledge of vascular anomalies has grown in the last few decades with the identification of key molecular pathways and genetic mutations that drive the formation and progression of vascular anomalies. Many of these blood vessel malformations are evident at birth, others do not appear until later in childhood and adolescence. Vascular malformations are part of the group of vascular anomalies which in turn is distinguished from the group of vascular tumors. Vascular malformations can appear anywhere on the body as a mass of soft tissue, causing pain, swelling and/or discoloration of the skin, blood clotting problems, organ damage, functional or cosmetic problems. Vascular malformations are rare and occur in about 1% of all births with a frequency of 1 person in 5,000-10,000 people for the venous malformations, the most common type. To date, the treatments available focus on reducing symptoms through sclerotherapy, catheter embolization, laser treatments and radiation therapy (radiosurgery).

Given the rarity of these vascular anomalies and the number of different types of malformations, diagnoses are often difficult, therefore genomic studies are required. Unfortunately, genetic tests involve painful tissue biopsies which are not always feasible and cause anxiety for the patient. For this reason, the need for various professional figures such as surgeons, geneticists, and bioinformatics to collaborate is growing more and more to fill the gap with their expertise for scientific progression. In fact, in recent years liquid biopsy has appeared as a new oncological investigation technique but its application has also extended to the field of vascular malformations. At the moment there are a few pioneering studies about the application of liquid biopsy for the diagnostic investigation of vascular malformations and for this reason we invite the scientific community to look at this new frontier.

We are pleased to invite you to contribute to the drafting of scientific work which will help to address the current need for precise diagnosis in vascular malformation-affected patients. The special issue aims to identify innovative, non-invasive, and effective strategies to detect the molecular scenario of vascular malformations allowing to avoid any risk of bleeding and to better investigate the therapy tailored to the genetic defect. In this special issue, original research articles and reviews are welcome.

Research areas may include (but are not limited to) the following:
liquid biopsy, vascular malformations, noninvasive techniques, high throughput sequencing, arteriovenous malformation, venous malformation, lymphovenous malformations, innovative technologies, and new strategies.