Description
The PML-RARA fusion is the result of a recurrent, balanced translocation between chromosomes 15 and 17, denoted as t(15;17)(q22;q12), and a diagnostic event in acute promyelocytic leukemia (APL). Both in vitro and in vivo studies have shown sensitivity to ATRA (all-trans retinoic acid) in APL patients harboring the PML-RARA fusion. Recent interest has been shown in combining ATRA and arsenic trioxide for treating these patients, and early results seem promising. However, newly discovered mutations in the B2 domain of PML have started to show conferred resistance to ATRA in these patients.
Cyan = gene · Slate = variant · Green = drug · Click variant to filter table
Variants (3)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 462 | A216V | NC_000015.9:g.74315213C>T | missense_variant |
| 461 | B2 DOMAIN MUTATION | missense_variant | |
| 463 | L218P LEU218PRO | NC_000015.9:g.74315219T>C | missense_variant |