GNAQ公司
种系突变
体细胞
血管瘤
病理
错义突变
病变
医学
突变
生物
遗传学
基因
作者
Catherine K. Gestrich,Matthew P. Vivero,Dennis J. Konczyk,Jeremy A. Goss,Brian I. Labow,Gregory D. Pearson,Catherine E. Cottrell,Mariam Thomas,Vinay Prasad,Harry P. Kozakewich,Christopher D.�M. Fletcher,Arin K. Greene,Alyaa Al‐Ibraheemi
标识
DOI:10.1097/pas.0000000000002127
摘要
Papillary hemangioma (PH) is a small, primarily dermal lesion occurring predominantly in the head and neck in both children and adults. Its signature characteristics are dilated thin-walled channels containing papillary clusters of mainly capillary-sized vessels and endothelial cytoplasmic eosinophilic inclusions. Given certain histopathologic similarities to congenital hemangioma which harbor mutations in GNAQ and GNA11 , we investigated whether similar mutations are present in PH. Seven PH specimens were studied. All presented in the first 4 years of life, with one being noted at birth. With the exception of one lesion, all were in the head and neck. Lesions were bluish and ranged in size from 0.5 to 2.8 cm. Four samples had GNA11 p.Q209L and 3 had GNAQ p.Q209L missense mutations. Mutations in GNA11 and GNAQ are associated with other types of somatic vascular lesions including capillary malformation, congenital hemangioma, anastomosing hemangioma, thrombotic anastomosing hemangioma, and hepatic small cell neoplasm. Shared mutations in GNA11 and GNAQ may account for some overlapping clinical and pathologic features in these entities, perhaps explicable by the timing of the mutation or influence of the germline phenotype.
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