Vascular malformation

"Abnormal blood vessels" is not a specific molecular target but rather a broad descriptive term encompassing a range of structural and functional abnormalities in the vasculature. The scientifically accurate term for this group is **vascular malformation** or **vascular anomaly**, which refers to congenital or acquired defects in the formation and organization of blood vessels. These are classified by the International Society for the Study of Vascular Anomalies (ISSVA) into two main categories: *vascular tumors* (such as hemangiomas) and *vascular malformations* (including capillary, venous, lymphatic, arteriovenous types)[4][5][6]. Vascular malformations are associated with mutations in several genes that regulate endothelial cell growth and signaling pathways—most notably RASA1 (RAS p21 protein activator 1), GNAQ (G protein subunit alpha q), TEK/TIE2 receptor tyrosine kinase, PIK3CA—and involve dysregulation of pathways such as Ras/MAPK/ERK and PI3K/AKT/mTOR[1][2][5]. These genetic changes can lead to abnormal proliferation or organization of endothelial cells without normal involution. Therapeutic strategies have focused on targeting these molecular pathways using drugs like sirolimus (an mTOR inhibitor) or other agents originally developed for cancer therapy that inhibit key nodes in these signaling cascades. However, "abnormal blood vessels" itself is not a single molecule/receptor but describes a pathological state involving multiple possible targets depending on the specific type and genetic basis of the vascular anomaly. Because "abnormal blood vessels" does not refer to one defined molecule/receptor but rather an entire class of disorders with diverse underlying causes—and because it lacks specificity—it should be considered an incorrect entry if used as a therapeutic target name. Instead, more precise terms such as "Vascular endothelial growth factor receptor 2," "TEK receptor tyrosine kinase," or gene-specific names should be used when referring to drug targets within this disease context[6]. > “Vascular anomalies include various diseases…classified into two types according to ISSVA classification: vascular tumors…and vascular malformations primarily consisting of structural vascular abnormalities.” [5]

Other names

Abnormal blood vesselvascular anomalyvascular abnormalitymalformed blood vessel

Inhibition of mTOR pathway (e.g., sirolimus); Inhibition of PI3K/AKT/mTOR signaling cascade[1][7]