头颈部血管异常的基因检测新进展。
Updates in Genetic Testing for Head and Neck Vascular Anomalies.
机构信息
Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute for Child Health and Human Development, 10 Center Drive, MSC 1103, Bethesda, MD 20892-1103, USA.
Department of Pathology and ARUP Laboratories, University of Utah, 2000 Circle of Hope, Room 3100, Salt Lake City, UT 84112, USA.
出版信息
Oral Maxillofac Surg Clin North Am. 2024 Feb;36(1):1-17. doi: 10.1016/j.coms.2023.09.001. Epub 2023 Oct 20.
Abstract
Vascular anomalies include benign or malignant tumors or benign malformations of the arteries, veins, capillaries, or lymphatic vasculature. The genetic etiology of the lesion is essential to define the lesion and can help navigate choice of therapy. . In the United States, about 1.2% of the population has a vascular anomaly, which may be underestimating the true prevalence as genetic testing for these conditions continues to evolve.
摘要
血管异常包括动脉、静脉、毛细血管或淋巴血管的良性或恶性肿瘤或良性畸形。病变的遗传病因对于确定病变至关重要，并有助于指导治疗选择。在美国，约有 1.2%的人口存在血管异常，但由于这些疾病的基因检测不断发展，这可能低估了真实的患病率。
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1
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2
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3
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4
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