How we approach genetics in the diagnosis and management of vascular anomalies.

Autor: Setty BA; Division of Hematology/Oncology/BMT, Nationwide Children's Hospital, and Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA., Wusik K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Hammill AM; Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Jazyk: angličtina
Zdroj: Pediatric blood & cancer [Pediatr Blood Cancer] 2022 Aug; Vol. 69 Suppl 3, pp. e29320.
DOI: 10.1002/pbc.29320
Abstrakt: 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.
(© 2021 Wiley Periodicals LLC.)
Databáze: MEDLINE
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