RARA
Overview
RARA encodes retinoic acid receptor alpha, a nuclear receptor transcription factor critical for myeloid differentiation. The PML-RARA fusion, resulting from t(15;17), is the defining alteration of acute promyelocytic leukemia (APL) and is highly responsive to all-trans retinoic acid (ATRA) and arsenic trioxide therapy. In AML genomic studies, PML-RARA represents the prototypical favorable-risk transcription-factor fusion.
Alterations observed in the corpus
- PML-RARA fusion (from t(15;17)) is a favorable-risk transcription-factor fusion in AML, mutually exclusive with NPM1 and DNMT3A mutations; PML-RARA-fused samples carried the fewest cooperating mutations in the AML cohort PMID:23634996
- RARA participates in the PML-RARA fusion from t(15;17), which defines a favorable-risk AML subgroup (4%, n=60; HR 0.3 [0.2–0.4]) in a 1540-patient AML genomic study PMID:27276561.
- PML–RARA is a classic leukemic fusion recovered in LAML ‘fusion-only’ tumors (n=2) across 9,624 TCGA pan-cancer samples; it is among the top druggable fusions with 16 LAML samples flagged by DEPO annotation PMID:29617662.
Cancer types (linked)
- AML: PML-RARA defines acute promyelocytic leukemia (APL); mutually exclusive of NPM1, FLT3, and DNMT3A driver mutations PMID:23634996
Co-occurrence and mutual exclusivity
- PML-RARA is mutually exclusive with NPM1, DNMT3A, FLT3, and RUNX1 driver mutations; forms a distinct mutual-exclusivity group with RUNX1-RUNX1T1 and MYH11-CBFB fusions PMID:23634996
Therapeutic relevance
- PML-RARA-positive APL is treated with ATRA and arsenic trioxide; PML-RARA-fused AML carries favorable prognosis PMID:23634996
Open questions
- The landscape of cooperating mutations in PML-RARA-positive AML and their potential impact on treatment resistance are not deeply characterized in this cohort.
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:27276561
This page was processed by entity-page-writer on 2026-05-15. - PMID:29617662
This page was processed by wiki-cli on 2026-05-15.