Table 1.
Sample | Age (Years) | Sex | Site | Diagnosis | Somatic Mutation |
No. of Reads in Tissue |
No. of Reads in Blood |
p Value | ||
---|---|---|---|---|---|---|---|---|---|---|
Ref. | Non-ref. | Ref. | Non-ref. | |||||||
V101 | 0 | male | neck | KHE | GNA14 c.614A>T (p.Gln205Leu) | 81 | 8 | 96 | 0 | 2.4 × 10−3 |
V102 | 0 | male | abdomen | TA | GNA14 c.614A>T (p.Gln205Leu) | NAa | NAa | NAa | NAa | NA |
V103 | 2 | male | cheek | LCH | GNA14 c.614A>T (p.Gln205Leu) | NAa | NAa | NAa | NAa | NA |
V104 | 12 | male | scalp | LCH | GNA11 c.547C>T (p.Arg183Cys) | 55 | 16 | NAb | NAb | NA |
V105 | 2 | male | cheek | LCH | GNA11 c.547C>T (p.Arg183Cys) | NAa | NAa | NAa | NAa | NA |
Abbreviations are as follows: KHE, kaposiform hemangioendothelioma; LCH, lobular capillary hemangioma; NA, not applicable; non-ref., non-reference; ref., reference; and TA, tufted angioma.
Mutation identified by Sanger sequencing.
Exome sequencing performed on tumor only.