PML mutations in hematologic malignancies
Tumor type (no. samples analyzed), exon/intron . | DNA change . | AA change (PML isoform 1) . | Predicted alteration . |
|---|---|---|---|
| APL (50) | |||
| IVS3 | IVS3 – 1G → A | Splice site | Frameshift |
| E5 | 1272delAG | Stop at 435 | Frameshift |
| E9 | 1933C → T* | F645L | Missense |
| E9 | 1956C → T* | A652A | Silent |
| E9 | 2025C → T* | A675A | Silent |
| AML non-APL (26) | |||
| E1 | 45C → A | P15P | Silent |
| E1 | 46G → A | A16T | Missense |
| IVS7 | IVS7 – 22C → T | None | Intronic/Splicing |
| MDS (15), 5′UTR | –14C → G | None | Posttranscriptional |
| Multiple myeloma (12), IVS4 | IVS4 + 24G → C | None | Intronic/splicing |
| Lymphoma (28), IVS4 | IVS4 + 24G → C | None | Intronic/splicing |
Tumor type (no. samples analyzed), exon/intron . | DNA change . | AA change (PML isoform 1) . | Predicted alteration . |
|---|---|---|---|
| APL (50) | |||
| IVS3 | IVS3 – 1G → A | Splice site | Frameshift |
| E5 | 1272delAG | Stop at 435 | Frameshift |
| E9 | 1933C → T* | F645L | Missense |
| E9 | 1956C → T* | A652A | Silent |
| E9 | 2025C → T* | A675A | Silent |
| AML non-APL (26) | |||
| E1 | 45C → A | P15P | Silent |
| E1 | 46G → A | A16T | Missense |
| IVS7 | IVS7 – 22C → T | None | Intronic/Splicing |
| MDS (15), 5′UTR | –14C → G | None | Posttranscriptional |
| Multiple myeloma (12), IVS4 | IVS4 + 24G → C | None | Intronic/splicing |
| Lymphoma (28), IVS4 | IVS4 + 24G → C | None | Intronic/splicing |
The mutations were compared with the PML gene sequence mRNA NM-033238 and confirmed by bidirectional analysis. Forty-four anonymized DNA samples from healthy volunteers were analyzed as controls.
AA indicates amino acid; MDS, myelodysplasia; 5′UTR, 5′ untranslated region; E, exon.
Polymorphism