Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.,Clinical Genetics

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Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-08-16 , DOI: 10.1111/cge.13833
Christopher L Sudduth ₁ , Anna M McGuire ₂ , Patrick J Smits ₁ , Dennis J Konczyk ₁ , Alyaa Al-Ibraheemi ₃ , Steven J Fishman ₂ , Arin K Greene ₁

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Extracranial arteriovenous malformation (AVM) is most commonly caused by a somatic mutation in MAP2K1. We report two patients with vascular anomalies that had an unclear clinical diagnosis most consistent with either an AVM or congenital hemangioma. Lesions were cutaneous, reddish‐purple with telangiectasias, present at birth, and had defined borders. Histopathology indicated AVM and both lesions contained somatic KRAS mutations. A rare AVM phenotype exists that shares clinical features with congenital hemangioma.

中文翻译：

类似于先天性血管瘤的动静脉畸形表型包含 KRAS 突变。

颅外动静脉畸形 (AVM) 最常由MAP2K1 中的体细胞突变引起。我们报告了两名血管异常患者，其临床诊断不明确，最符合 AVM 或先天性血管瘤。皮损呈红紫色，伴有毛细血管扩张，出生时即存在，边界清晰。组织病理学表明 AVM 和两个病变都含有体细胞KRAS突变。存在一种罕见的 AVM 表型，其临床特征与先天性血管瘤相同。

更新日期：2020-08-16

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