先天性血管瘤是一种出生前形成的罕见的血管性肿瘤。出生后肿瘤快速消退(RICH)或部分消退(NICH)。该文作者提出假设,体细胞突变导致先天性血管瘤发生。对8例患儿进行m RNA测序。结果发现,大量的错义突变出现在GNAQ和GNA11基因谷氨酰胺209(Glu209),变异等位基因(VAF)发生率为3%~33%。作者采用联合分子倒置探针测序 Congenital hemangioma is a rare form of vascular tumor before birth. After birth, the tumor rapidly regresses (RICH) or partially regresses (NICH). The authors propose the hypothesis that somatic mutations lead to congenital hemangiomas. Eight patients had m ​​RNA sequencing. The results showed that a large number of missense mutations occurred in GNAQ and GNA11 gene glutamine 209 (Glu209), the incidence of variant alleles (VAF) was 3% to 33%. The authors used a combined molecular inverted probe sequencing