PHF6
Overview
PHF6 (Plant Homeodomain Finger 6) encodes a PHD-domain chromatin-associated protein. Mutations in PHF6 have been identified in T-cell acute lymphoblastic leukemia (T-ALL) and AML, where it is considered a recurrent driver. The gene shows allelic expression bias in AML, consistent with monoallelic inactivation patterns.
Alterations observed in the corpus
- Identified as a recurrent driver in AML with allelic expression bias; part of the nine functional mutation categories defined across 200 AML cases PMID:23634996
- Single nonsense mutation p.Arg347Ter (suspected germline) identified in the sinonasal adenoid cystic carcinoma cohort PMID:24418857
- PHF6 identified as a chromatin regulator within the chromatin-spliceosome subgroup of AML in a genomic landscape study of 1540 patients from AML treatment trials PMID:27276561.
Cancer types (linked)
- AML: PHF6 is a recurrently mutated gene with allelic expression bias, grouped among the AML driver genes outside the primary nine functional categories; its exact mutation frequency in this cohort is not individually specified but it reaches significance as a driver PMID:23634996
Co-occurrence and mutual exclusivity
- Mutually exclusive with WT1 alteration in some classifications; both are listed together as additional recurrent AML drivers PMID:23634996
Therapeutic relevance
- No direct therapeutic targeting of PHF6 is described in the corpus.
Open questions
- The precise frequency of PHF6 mutations in the TCGA AML cohort of 200 cases and its interaction with specific cytogenetic subgroups requires further clarification.
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:24418857
This page was processed by crosslinker on 2026-05-09. - PMID:27276561
This page was processed by entity-page-writer on 2026-05-15.