Table 1. KRAS and BRAF mutations identified in individuals with hepatic cavernous hemangiomas.
Patient | Pathological feature/size/location | Age (yr) | Sex | Next generation sequencing (MAF%) | BNA clamp | Sanger sequencing |
---|---|---|---|---|---|---|
1 | Cavernous hemangioma (6.5 cm in greatest dimension), right lobe | 62 | Female | K-RAS p.G12D (0.75%) | Mutant | ND |
2 | Hemangioma of the liver (7.0 × 7.0 × 3.5 cm), left lateral lobe | 37 | Male | K-RAS p.G12S (0.1%)a; K-RAS p.G12D (0.1%) | Mutant | K-RAS p.G12S |
3 | Cavernous hemangioma (7 cm in greatest dimension), right lobe | 40 | Female | K-RAS p.G12S (0.2%) | Mutant | K-RAS p.G12S |
4 | Two hemangiomas (1.9 and 1.1 cm), right lobe | 57 | Male | K-RAS p.G13D (0.4%) K-RAS p.G13S (0.47%) | Mutant | ND |
5 | Cavernous hemangioma with scattered areas of sclerosis (6.3 cm), left lobe | 87 | Male | K-RAS p.G12D (0.68%) | Mutant | K-RAS p.G12C; K-RAS p.G12S |
6 | Cavernous hemangioma (10 cm) | 48 | Female | K-RAS p.G12S (0.31%) | Mutant | ND |
7 | Cavernous hemangioma with foci of necrosis and fibrosis (8.5 × 6 × 2 cm) | 43 | Female | K-RAS p.G12S (0.3%) BRAF p.V600M (0.17%)b | Mutant | K-RAS p.G12S; K-RAS p.G12D |
8 | Cavernous hemangioma of liver with extensive fibrosis, thrombi, and infarct (17.5 × 9 × 9 cm) | 48 | Male | K-RAS p.G12S (0.35%); K-RAS p.G12D (0.57%) K-RAS p.G13S (0.5%); K-RAS p.G13D (0.43%) | Mutant | K-RAS p.G12S; K-RAS p.G12V |
9 | Cavernous hemangioma (1.3 cm) | 50 | Female | K-RAS p.G12S (0.32%) | Mutant | ND |
10 | Cavernous hemangioma with focal degenerative change, segments 2 and 3 | 40 | Female | K-RAS p.G12S(0.25); K-RAS p.G13S (0.32%) | Mutant | ND |
11 | Cavernous hemangioma partially sclerosed (19.0 cm) | 42 | Male | K-RAS p.G13D (0.18%) | Mutant | K-RAS p.G12R |
12 | Cavernous hemangioma (1.5 cm), right lobe | 46 | Female | BRAF p.V600M (0.15%) | Mutant | BRAF p.V600M |
13 | Hemangioma (6.1 cm), left lobe | 55 | Female | BRAF p.V600M (0.2%) | Mutant | ND |
14 | Hepatic hemangioma (2.5 cm) | 42 | Female | BRAF p.V600M (0.18%) | Mutant | ND |
MAF, mutant allele frequency.
Manually verified in NextGENe alignment viewer.
Sanger sequence not determined.