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

Written2009-08Marie-Joëlle Mozziconacci, Christine Pérot
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)

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1507
  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.

Clinics and Pathology

Disease Acute myeloid leukemia AML-M5 without features of erythrophagocytosis.
Note Only one case reported (a 75-year old woman). t(8;20) as a sole abnormality.
Clinics Splenomegaly, DIVC. Hyperleucocytosis, anemia and thrombopenia.
Treatment Hydroxyurea and low-dose cytosine-arabinoside.
Evolution Death 2 months after diagnosis. No remission obtained.

Genes involved and Proteins

Gene NameKAT6A (MYST histone acetyltransferase (monocytic leukemia) 3
Location 8p11.21
Note 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 Breakpoint in intron 17.
Protein 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 NameNCOA3 (Nuclear Receptor Coactivator 3)
Location 20q13.12
Note 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 Breakpoint in exon 13 (Δ45bp).
Protein Member of the p160/steroid receptor coactivator family. 1424 amino acids; 155 kDa (130 kDa encoded by isoform b).

Result of the chromosomal anomaly

Hybrid gene
Note 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.
Fusion Protein
Note The CREB-interacting domain in NCOA3 (1046-1092aa) is conserved in the putative MYST3-NCOA3 fusion protein (at positions 1246-1292aa).

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


NCOA3, a new fusion partner for MOZ/MYST3 in M5 acute myeloid leukemia.
Esteyries S, Perot C, Adelaide J, Imbert M, Lagarde A, Pautas C, Olschwang S, Birnbaum D, Chaffanet M, Mozziconacci MJ.
Leukemia. 2008 Mar;22(3):663-5. Epub 2007 Sep 6.
PMID 17805331


This paper should be referenced as such :
Mozziconacci, MJ ; Pérot, C
Atlas Genet Cytogenet Oncol Haematol. 2010;14(7):696-697.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;20)(p11;q13) KAT6A/NCOA3

External links

KAT6A (8p11.21) NCOA3 (20q13.12)

KAT6A (8p11.21) NCOA3 (20q13.12)

Mitelman databaset(8;20)(p11;q13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseKAT6A::NCOA3 [MCList]  KAT6A (8p11.21) NCOA3 (20q13.12)
REVIEW articlesautomatic search in PubMed
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