t(8;22)(p11;q13) KAT6A/EP300

2003-12-01   Jacques Boyer 

1.Laboratoire d hématologie, CH du MANS, France

Clinics and Pathology


Acute myelomonocytic or monocytic leukemia (M4, M5a, M5b) associated with erythrophagocytosis by blasts noted to various degree, one case is probably a therapy-related leukemia.




Erythrophagocytosis by blasts cells is occasionally found but not marked.


probably poor


Cytogenetics morphological

Additional anomalies

In one case association with trisomy 8

Genes Involved and Proteins

Gene name
KAT6A (MYST histone acetyltransferase (monocytic leukemia) 3
MOZ contains a LAP (Leukemia associated protein) zinc finger domain , a HAT domain (Histone acetyltransferase) and a acidic domain. Detection by FISH : YAC 176C9.
Protein description
Monocytic leukemia zinc finger protein
2004 amino acids and 225 kDa nuclear protein, with 2 PHD-type zinc fingers.
MOZ is a histone acetyltransferase (HAT) and the fouding member of the MYST family of HATs, a family that includes proteins involved in cell cycle regulation, chromatin remodeling and dosage compensation.
MOZ plays an important role during hematopoiesis with his transcriptional coregulator activity.
Gene name
EP300 (E1A binding protein p300)
Detection: FISH with the bacterial artificial chromosome clone H59D10
Protein description
Adenoviral E1A-associated protein p300 with acethyltransferase activity

Result of the Chromosomal Anomaly


Gene fusion MOZ/P300


MOZ is disrupted within the sequences encoding the acidic domain. Both fusion transcripts are expressed. The t(8;22) breakpoints occurs in MOZ codon 1117 within an exon of 4 kb.MOZ-p300 fusion is similar to MOZ-CBP described in the t(8;16) but involve p300 instead of CBP. The translocation creates in-frame fusion proteins (MOZ-p300 and p300-MOZ). The two fusion proteins retain the N-terminus portion of MOZ including the HAT domain.


How the MOZ-p300 fusion protein is involved in acute leukemia is not known, but it probably affects the chromatin condensation.


Pubmed IDLast YearTitleAuthors
93765941997Abnormalities of chromosome band 8p11 in leukemia: two clinical syndromes can be distinguished on the basis of MOZ involvement.Aguiar RC et al
27907481989A complex t(3;8;17) involving breakpoint 8p11 in a case of M5 acute nonlymphocytic leukemia with erythrophagocytosis.Bertheas MF et al
108249982000MOZ is fused to p300 in an acute monocytic leukemia with t(8;22).Chaffanet M et al
75232451994Molecular cloning and functional analysis of the adenovirus E1A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor.Eckner R et al
34761501987A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia.Heim S et al
34726401987Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: a new specific subgroup?Laï JL et al
16065611992Acute monocytic leukemia with (8;22)(p11;q13) translocation. Involvement of 8p11 as in classical t(8;16)(p11;p13).Lai JL et al
111741182000[FGFR1 and MOZ, two key genes involved in malignant hemopathies linked to rearrangements within the chromosomal region 8p11-12].Pébusque MJ et al
120106822002Secondary acute monocytic leukemia with a translocation t(8;22)(p11;q13).Tasaka T et al



Two distinct clinical syndromes have been associated with the 8p11-p12 region :
  • Stem-cell myeloproliferative disorder with FGFR1 rearrangement.
  • AML M4 or M5 erythrophagocytosis-associated, with MOZ rearrangement.
  • the t(8;22) (p11; q13) involves MOZ

    The partners of 8p11 are 8q13, 14q11, 16p13, 19q13, 22q13 and 3q27, 17q12 in a complexe translocation t(3;8;17)(q27;p11; q12).

  • Citation

    Jacques Boyer

    t(8;22)(p11;q13) KAT6A/EP300

    Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

    Online version: http://atlasgeneticsoncology.org/haematological/1119/t(8;22)(p11;q13)