Table 2.
Genomic testing results.
| Gene | Mutation | Type | Allele frequency (%) |
|---|---|---|---|
| TP53 | ENST00000269305.8:c.490A>G:exon5:p.K164E | Somatic | 98 |
| RB1 | ENST00000267163.5:c.1442_1470del:exon16:p.I481fs | Somatic | 98 |
| CTNNB1 | ENST00000349496.11:c.133_135del:exon3:p.S45del | Somatic | 97 |
| ATRX | ENST00000373344.10:c.1834A>T:exon9:p.K612* | Somatic | 97 |
| Other key genomic features | |||
| Low mutation burden (2.38 mutations per megabase) | |||
| High number of chromosomal breaks | |||
| Whole-genome doubling | |||
* indicates the amino acid change leads to a stop codon.
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