Abstract
Vascular anomalies include various diseases, which are classified into two types according to the International Society for the Study of Vascular Anomalies (ISSVA) classification: vascular tumors with proliferative changes of endothelial cells, and vascular malformations primarily consisting of structural vascular abnormalities. The most recent ISSVA classifications, published in 2018, detail the causative genes involved in many lesions. Here, we summarize the latest findings on genetic abnormalities, with the presentation of the molecular pathology of vascular anomalies.
Highlights
IntroductionHemangioma simplex and cavernous hemangioma, for example, are morphological abnormalities of capillary blood vessels or veins, respectively, despite the disease name “hemangioma”
ISSVA ClassificationCitation: Kunimoto, K.; Yamamoto, Y.; Jinnin, M
In addition to an abnormal expression of the molecules involved in lymphangiogenesis, such as the vascular endothelial growth factor (VEGF)-C and VEGF receptor type3 (VEGFR3), PIK3CA mutations have been detected in lymphatic endothelial cells (ECs) of the lesions [4]
Summary
Hemangioma simplex and cavernous hemangioma, for example, are morphological abnormalities of capillary blood vessels or veins, respectively, despite the disease name “hemangioma” These diseases differ from tumors in a narrow sense, which refers to autonomous cell proliferation. In addition to such problems with disease naming and nomenclature, vascular lesions can occur at various ages and in various organs, meaning they may require treatment in various hospital departments, so improved common terms/language are essential for mutual understanding. Under such circumstances, Mulliken and Glowacki described differences between infantile hemangioma with the proliferation of vascular endothelial cells (ECs) and vascular malformations characterized by the abnormal dilation of vessels without proliferation.
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