Advances in the genetic-phenotypic study of vascular malformations
10.3760/cma.j.cn114453-20230105-00004
- VernacularTitle:脉管畸形的基因型-表型研究进展
- Author:
Junlan WANG
1
;
Zhenzhen ZHANG
Author Information
1. 福建医科大学附属第一医院病理科，福州 350004
- Keywords:
Genotype;
Phenotype;
Mutation;
Vascular malformations;
Targeted therapy
- From:
Chinese Journal of Plastic Surgery
2023;39(11):1255-1261
- CountryChina
- Language:Chinese
-
Abstract:
Vascular malformationss (VMs) are resulted from localized vascular developmental defects. Most sporadic cases are associated with genetically heterozygous mutations, whereas some stem from autosomal dominant disorders caused by germline mutations. VMs often exhibit dinstinct gene mutations with diverse phenotypes for the same genes. Conversely, similar phenotypes may be resulted from mutations in different genes, making the differential diagnosis of VMs challenging. This article provide a comprehensive review of recent addition to the new International Society for Study of Vascular Anomalies classification, including causative genes for vasculogenic lesions. There are four primary signaling pathways involved in specific mutations, namely, PIK3CA/mTOR, RAS/MAPK, G-protein-coupled receptor signaling pathway, and transforming growth factor-β. The author also explore the factors affecting the genotype-phenotype correlations, including the time of mutation occurrence, cell types, mutation types, allele variants frequency and epigenetic abnormalities. Furthermore, it discusses the diagnostic method for VMs, encompassing clinical screening, diagnostic imaging, and genetic diagnosis, with a focus on facilitaing clinical application of targeted drug therapy.
