GATA2
Overview
GATA2 encodes a zinc-finger transcription factor that is essential for hematopoietic stem and progenitor cell maintenance. Germline mutations in GATA2 cause GATA2 deficiency syndrome (Emberger syndrome), which predisposes carriers to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Somatic GATA2 mutations also occur in AML and MDS, where the gene participates in the broader landscape of transcription-factor and epigenetic driver alterations.
Alterations observed in the corpus
- GATA2 was identified as one of the driver genes among 76 genes/genomic regions harboring 5234 total driver mutations in 1540 adults with AML enrolled in German-Austrian AMLSG intensive-therapy trials (AML-HD98A, AMLSG-07-04, AML-HD98B); sequencing panel included 111 leukemia genes including GATA2 PMID:27276561
- Germline heterozygous frameshift (de novo) identified in a pediatric patient with AML and myelodysplastic syndrome in the PIPseq cohort; the finding was a transplant-recommendation modifier (diagnostic of GATA2 deficiency/Emberger syndrome) PMID:28007021.
Cancer types (linked)
- AML — GATA2 detected as a somatic driver in the large AMLSG genomic classification cohort (N=1540) PMID:27276561
Co-occurrence and mutual exclusivity
- No specific co-occurrence or mutual exclusivity data for GATA2 reported in the corpus at this time.
Therapeutic relevance
- No specific therapeutic targeting of GATA2 reported in the corpus at this time.
Open questions
- The precise frequency and prognostic impact of somatic GATA2 mutations within the 11 genomic AML subgroups defined by Papaemmanuil et al. remain to be further characterized in prospective studies.
Sources
This page was processed by crosslinker on 2026-05-14. - PMID:28007021
This page was processed by wiki-cli on 2026-05-14.