Genetic aspects of vascular malformations
(2009) Hemangiomas and Vascular Malformations. An Atlas of Diagnosis and Treatment — ISBN: [978-88-470-0568-6.], p. 99-108, published
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- Abstract
- Vascular malformations are comprised of a variety of developmental defects of the vasculature. Typi- cally sporadic in nature, they can sometimes occur as incompletely penetrant, inherited traits. The ge- netic bases of several of these anomalies have been identified, and are described in this review. This has had a hugely beneficial impact in terms of the pre- cise diagnosis and appropriate, effective treatment of different disease entities; it has also revealed poten- tial therapeutic targets for the future. The advances made thus far, however, are largely confined to the rare, familial forms, and much remains to be un- covered about the genes that mediate common spo- radic versions of vascular malformations. Moreover, the pathogenic pathways and molecular mechanisms by which the aberrant genes cause these defined, of- ten heterogeneous lesions, remain to be thoroughly dissected. Previous studies have largely focused on the analysis of blood samples, as these are more ac- cessible. Further progress in identifying the somat- ic events that cause sporadic lesions or locally ex- acerbate the pathogenic effects of germline-het- erozygous mutant alleles will require the additional assessment of irregularities of gene expression and function at the level of lesion-derived tissue.
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Limaye, N., & Vikkula, M. (2009). Genetic aspects of vascular malformations. In Mattassi R, Loose DA, Vaghi M (ed.), Hemangiomas and Vascular Malformations. An Atlas of Diagnosis and Treatment (p. p. 99-108). Springer-Verlag. https://hdl.handle.net/2078.5/162304