Table 2. Novel mutations found in B2 domain of PML gene in 4 relapsed APL patients detected by the Ion torrent PGM sequencing.
| Patient ID—Relapse | Position in chromosome 15 (NC_000015.9) | Type | Zygosity | Genotype | Variation Frequency (%) | Coverage % at 100x | Function | Transcript Variant | Protein Change | IC50 (μM) | ICATO* (ng/107 cells) | Molecular remission achieved post relapse treatment with ATO |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SO_2210_PRS19 | 74315308 | SNP | Het | C/T | 5.05 | 99.6% | Nonsense | 742C>T | p.Gln248* | 1.51 | 12.39 | NA + |
| SO_2210_PRS45 | 74315203 | SNP | Het | T/A | 6.25 | 99.6% | Missense | 637T>A | p.Cys213Ser | 2.17 | NA | NA ++ |
| SO_2210_PRS8 | 74315207 | SNP | Het | C/T | 93.39 | 99.6% | Missense | 641C>T | p.Ser214Leu | NA | NA | Yes |
| SO_2210_PRS4 | 74315222 | DEL | Het | AC/A | 94.73 | 99.2% | Frameshift Deletion | - | p.Asp219Glu | 6.87 | 6.93 | Yes |
| 74315224 | INS | Het | A/AT | 94.15 | 99.2% | Frameshift Insertion | - | p.Ser220Met |
* ICATO—Intracellular ATO
+ Discharged against medical advice
++ Died during induction (sepsis)