t(8;20)(p11;q13) KAT6A/NCOA3

2009-08-01   Christine Pérot , Marie-Joelle Mozziconacci 

1.Institut Paoli-Calmettes, 232 Bd de Sainte-Marguerite, 13009 Marseille, France (MJM); Hôpital Saint-Antoine, 184 rue du Faubourg Saint-Antoine, 75012 Paris, France (CP)

Clinics and Pathology


Acute myeloid leukemia AML-M5 without features of erythrophagocytosis.


Only one case reported (a 75-year old woman). t(8;20) as a sole abnormality.


Splenomegaly, DIVC. Hyperleucocytosis, anemia and thrombopenia.


Hydroxyurea and low-dose cytosine-arabinoside.


Death 2 months after diagnosis. No remission obtained.

Genes Involved and Proteins

Gene name
KAT6A (MYST histone acetyltransferase (monocytic leukemia) 3
MYST3 is a histone acetyltransferase (HAT) belonging to the MYST family of HATs, that includes proteins involved in cell cycle regulation, chromatin remodeling and dosage compensation. MYST3 plays an important role during hematopoiesis with his transcriptional coregulator activity.
Dna rna description
Breakpoint in intron 17.
Protein description
MYST3 contains a LAP (Leukemia associated protein) zinc finger domain, a HAT domain (Histone acetyltransferase) and a acidic domain. 2004 amino acids; 225 kDa.
Gene name
NCOA3 (Nuclear Receptor Coactivator 3)
NCOA3 is a transcriptional coactivator that interacts with nuclear hormone receptors and with other transcription factors including TP52, NfkB and ER81. It has intrinsic histone acetyltransferase activity and recruits CREB Binding Protein (CBP)/p300 co-integrators into multisubunit coactivator complexes.
Dna rna description
Breakpoint in exon 13 (Δ45bp).
Protein description
Member of the p160/steroid receptor coactivator family. 1424 amino acids; 155 kDa (130 kDa encoded by isoform b).

Result of the Chromosomal Anomaly


Both MYST3-NCOA3 and NCOA3-MYST3 are expressed. Only the MYST3-NCOA3 fusion transcript has an open reading frame that may generate a functional chimeric protein.The CREB-interacting domain in NCOA3 (1046-1092aa) is conserved in the putative MYST3-NCOA3 fusion protein (at positions 1246-1292aa).


Pubmed IDLast YearTitleAuthors
178053312008NCOA3, a new fusion partner for MOZ/MYST3 in M5 acute myeloid leukemia.Esteyries S et al


Fusion gene

KAT6A/NCOA3 KAT6A (8p11.21) NCOA3 (20q13.12) M t(8;20)(p11;q13)|KAT6A/NCOA3 KAT6A (8p11.21) NCOA3 (20q13.12) TIC
Atlas Image
Top. GTG and R-banded partial karyotypes.
Bottom. FISH of metaphase chromosomes of t(8;20)(p11;q13) with digoxigenin-labeled RP11-313J18 (MYST3 at 8p11) and biotinylated RP11-1151C1 (5 and main part of NCOA3 region at 20q13) and RP11-122N8 (3 part of NCOA3 and SULF2 region at 20q13). Fused RP11-313J18 / RP11-1151C1+RP11-122N8 (red/green) signals are observed on der(8) and der(20) chromosomes. Courtesy of Christine Pérot and Marie-Joëlle Mozziconacci.


Christine Pérot ; Marie-Joelle Mozziconacci

t(8;20)(p11;q13) KAT6A/NCOA3

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1507/t(8;20)(p11;q13)