How we approach genetics in the diagnosis and management of vascular anomalies. (7th September 2022)

• Record Type: Journal Article
• Authors: Setty, Bhuvana A.; Wusik, Katie; Hammill, Adrienne M.
• Other Names: Takemoto Clifford M guestEditor.; Snyder Kristen guestEditor.
• Is Part Of: Pediatric blood & cancer. Volume 69(2022)Supplement 3
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-09-07
• Subjects: genetic testing -- somatic mosaicism -- vascular malformations -- vascular tumors; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.29320
• Languages: English
• ISSNs: 1545-5009

Abstract

Abstract: Vascular anomalies are a heterogeneous group of disorders that are currently classified based on their clinical and histological characteristics. Over the past decade, there have been significant advances in molecular genetics that have led to identification of genetic alterations associated with vascular tumors, vascular malformations, and syndromes. Here, we describe known genetic alterations in vascular anomalies, discuss when and how to test, and examine how identification of causative genetic mutations provides for better management of these disorders through improved understanding of their pathogenesis and increasing use of targeted therapeutic agents in order to achieve better outcomes for our patients.