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<p>In recent years great progress has been made in understanding the genetic basis of vascular malformations. More than 50&#xa0;genes for the various forms of isolated and syndromic vascular malformations are now known. Central pathogenetic mechanisms consist of a&#xa0;dysregulation of molecular signaling pathways involved in vascular development. Somatic mutations in known proto-oncogenes, such as <i>PIK3CA</i>, <i>KRAS</i>, <i>BRAF</i> and others are the most common causes in sporadic cases; however, there are also various hereditary forms of vascular malformations. Identifying the genetic cause in affected individuals is still a&#xa0;challenge as there are a&#xa0;large number of possible causative genes and somatic mutations can only be detected in the cells of the vascular lesion itself; however, new methodological developments now enable comprehensive and highly sensitive genetic diagnostics. Knowledge of the underlying genetic cause is not only relevant for the classification of the disease and the genetic counselling of affected families, it is also becoming increasingly more important in view of new targeted drug treatment approaches.</p>

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Genetik von Gefäßmalformationen

  • 期刊论文

  • 发表日期：

    2025年5月8日

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  • Martin Zenker

摘要

In recent years great progress has been made in understanding the genetic basis of vascular malformations. More than 50 genes for the various forms of isolated and syndromic vascular malformations are now known. Central pathogenetic mechanisms consist of a dysregulation of molecular signaling pathways involved in vascular development. Somatic mutations in known proto-oncogenes, such as PIK3CA, KRAS, BRAF and others are the most common causes in sporadic cases; however, there are also various hereditary forms of vascular malformations. Identifying the genetic cause in affected individuals is still a challenge as there are a large number of possible causative genes and somatic mutations can only be detected in the cells of the vascular lesion itself; however, new methodological developments now enable comprehensive and highly sensitive genetic diagnostics. Knowledge of the underlying genetic cause is not only relevant for the classification of the disease and the genetic counselling of affected families, it is also becoming increasingly more important in view of new targeted drug treatment approaches.