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Genes and vascular malformations

More and more connections between genes and vascular malformations are being discovered
DNA

Over time, researchers are gaining more clarity about which genes are involved in which conditions, and vice versa. One of these researchers is Prof. Dr. Miikka Vikkula (one of our advisors). He has developed and maintains a timeline that links specific genes (potentially) to certain vascular malformations.

Miikka Vikkula is also one of the authors of an article on this subject, published in 2024 in the Orphanet Journal of Rare Diseases, titled “Assessment of Gene–Disease Associations and Recommendations for Genetic Testing for Somatic Variants in Vascular Anomalies by VASCERN-VASCA.”

Below is a summary of this article.

The full article

Background

Vascular anomalies are abnormalities of the blood vessels that can range from small, harmless issues to complex syndromes. These conditions are often caused by somatic (non-inherited) genetic changes that occur after birth. Advances in genetic technologies have made it possible to better understand these changes, improving diagnosis and treatment options.

Results (please note: this is a snapshot)

Gene Associated diseases Proof
AGGF1 Klippel-Trenaunay None
AKT1 Proteus syndrome Definitive
AKT3 CMTC variant (w/o (hemi)megalencephaly) or CM (with LM?) with hypertrophy Strong
ARAF CCLA Limited
BRAF Arteriovenous malformation Strong
BRAF (Macrocystic) Lymphatic malformation Moderate
BRAF Pyogenic granuloma Strong
CBL Kaposiform lymphangiomatosis Limited
GJA4 Cutaneous venous malformation (cavernous histology) Moderate
GJA4 Hepatic hemangioma Strong
GNA11 Capillary malformation w/o overgrowth Definitive
GNA11 Sturge-Weber syndroom Strong
GNA11 Congenital hemangioma Strong
GNAQ Capillary malformation w/o overgrowth Definitive
GNAQ Sturge-Weber syndroom Definitive
GNAQ Congenital hemangioma Definitive
GNAS Vascular malformations (any type) None
GNB2 Sturge-Weber syndroom Limited
HRAS Vascular malformations (various types) Strong
IDH1 Maffucci syndrome Definitive
IDH1 Spindle cell hemangioma Definitive
IDH2 Maffucci syndrome Strong
IDH2 Spindle cell hemangioma Strong
KRAS Sporadic arteriovenous malformation Definitive
KRAS Gorham-Stout disease Moderate
KRAS Epitheloid hemangioma Limited
MAP2K1 Arteriovenous malformation Definitive
MAP2K1 Epitheloid hemangioma Strong
MAP3K3 Verrucous venous malformation Strong
MAP3K3 Cerebral cavernous malformation Definitive
NPM1 Maffuci syndrome None
NRAS Vascular malformations, low flow, various types Limited
NRAS Kaposiform lymphangiomatosis Definitive
NRAS Pyogenic granuloma/tufted angioma Limited
PIK3CA PIK3CA-related overgrowth spectrum Definitive
PIK3CA Lymphatic malformation Definitive
PIK3CA Common venous malformation Definitive
PIK3CA Megalencephephaly-capillary malformation-polymicrogyria Definitive
PIK3CA Generalised lymphatic anomaly Strong
PIK3CD Lymphatic malformation Limited
PIK3R1 Capillary malformation, dilated veins, (mild) overgrowth +/- lymphatic malformation Strong
PTPN11 Capillary malformation w/o overgrowth Strong
TEK Common venous malformation Definitive
TEK Blue Rubber Bleb Nevus syndrome Strong
TEK Multifocal sporadic venous malformation Strong

A team of European experts identified 24 key genes linked to vascular anomalies. They evaluated how strongly each gene is associated with specific conditions. These findings provide a foundation for accurate genetic testing and targeted therapies.

Conclusions

This study outlines recommendations for genetic testing to help diagnose vascular anomalies. It emphasizes the importance of focusing on specific genes and provides insights into how labs can standardize their testing methods for better results.

Technical Recommendations

For reliable genetic testing, DNA should be taken from affected tissue (such as through a biopsy). Advanced techniques like deep sequencing and digital PCR are critical to detecting even small genetic changes.

CMTC
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