Genetics of Vascular Malformations: Current Perspectives
For decades, vascular anomalies are categorized as either vascular tumors or malformations based on their onset, clinical course, radiologic, and histologic features. Owing to the heterogeneity of vascular anomalies, they are frequently misdiagnosed. With the advent of massively parallel next-genera...
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doaj-e7242a62ff1c4ac0b4888e56f98a93762021-01-08T03:22:21ZengWolters Kluwer Medknow PublicationsIndian Journal of Paediatric Dermatology2319-72502021-01-0122111110.4103/ijpd.IJPD_175_20Genetics of Vascular Malformations: Current PerspectivesKin Fon LeongFor decades, vascular anomalies are categorized as either vascular tumors or malformations based on their onset, clinical course, radiologic, and histologic features. Owing to the heterogeneity of vascular anomalies, they are frequently misdiagnosed. With the advent of massively parallel next-generation sequencing, the molecular landscape of vascular anomalies is rapidly evolving and recent discoveries have shed light on the genetic basis and classification of these vascular disorders. The genotype-phenotype correlation will provide a more precise classification of vascular anomalies and form the basis for future targeted pharmacologic therapy. Thus far, inhibitor of mTOR, AKT1, and PIK3CA (sirolimus, miransertib, and alpelisib) have promising clinical results. In vascular malformations, majority of sporadic cases are due to somatic mutations that disrupt the main endothelial receptor intracellular signaling pathways, i.e., PIK3CA-AKT-mTOR, RAS - MAPK – ERK, and SMAD signaling pathways. Most of the sporadic vascular malformations are caused by somatic mutations that are acquired after fertilization, instead of being inherited from his parents. In general, this type of mosaicism is not inherited, except when the mutation affects the gonads.http://www.ijpd.in/article.asp?issn=2319-7250;year=2021;volume=22;issue=1;spage=1;epage=11;aulast=Leonggenotype-phenotypenext-generation sequencingsomatic mutationvascular malformations |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Kin Fon Leong |
spellingShingle |
Kin Fon Leong Genetics of Vascular Malformations: Current Perspectives Indian Journal of Paediatric Dermatology genotype-phenotype next-generation sequencing somatic mutation vascular malformations |
author_facet |
Kin Fon Leong |
author_sort |
Kin Fon Leong |
title |
Genetics of Vascular Malformations: Current Perspectives |
title_short |
Genetics of Vascular Malformations: Current Perspectives |
title_full |
Genetics of Vascular Malformations: Current Perspectives |
title_fullStr |
Genetics of Vascular Malformations: Current Perspectives |
title_full_unstemmed |
Genetics of Vascular Malformations: Current Perspectives |
title_sort |
genetics of vascular malformations: current perspectives |
publisher |
Wolters Kluwer Medknow Publications |
series |
Indian Journal of Paediatric Dermatology |
issn |
2319-7250 |
publishDate |
2021-01-01 |
description |
For decades, vascular anomalies are categorized as either vascular tumors or malformations based on their onset, clinical course, radiologic, and histologic features. Owing to the heterogeneity of vascular anomalies, they are frequently misdiagnosed. With the advent of massively parallel next-generation sequencing, the molecular landscape of vascular anomalies is rapidly evolving and recent discoveries have shed light on the genetic basis and classification of these vascular disorders. The genotype-phenotype correlation will provide a more precise classification of vascular anomalies and form the basis for future targeted pharmacologic therapy. Thus far, inhibitor of mTOR, AKT1, and PIK3CA (sirolimus, miransertib, and alpelisib) have promising clinical results. In vascular malformations, majority of sporadic cases are due to somatic mutations that disrupt the main endothelial receptor intracellular signaling pathways, i.e., PIK3CA-AKT-mTOR, RAS - MAPK – ERK, and SMAD signaling pathways. Most of the sporadic vascular malformations are caused by somatic mutations that are acquired after fertilization, instead of being inherited from his parents. In general, this type of mosaicism is not inherited, except when the mutation affects the gonads. |
topic |
genotype-phenotype next-generation sequencing somatic mutation vascular malformations |
url |
http://www.ijpd.in/article.asp?issn=2319-7250;year=2021;volume=22;issue=1;spage=1;epage=11;aulast=Leong |
work_keys_str_mv |
AT kinfonleong geneticsofvascularmalformationscurrentperspectives |
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