Abstract
The term “cavernous hemangioma” has been used to describe vascular anomalies with histology featuring dilated vascular spaces, vessel walls consisting mainly of fibrous stromal bands lined by a layer of flattened endothelial cells, and an irregular outer rim of interrupted smooth muscle cells. Hepatic hemangiomas (HH) and cutaneous venous malformations (cVM) share this histologic pattern, and we examined lesions in both tissues to identify genetic drivers. Paired whole-exome sequencing of lesional tissue and normal liver from HH subjects revealed a recurrent GJA4 c.121G>T, p.Gly41Cys somatic mutation in 4 of 5 unrelated cases, and targeted sequencing in paired tissue from 9 additional HH subjects identified the same mutation in 8.
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