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. 2020 May 13;217(7):e20192205. doi: 10.1084/jem.20192205

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.

a

Manually verified in NextGENe alignment viewer.

b

Sanger sequence not determined.