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

Written2003-12Jacques Boyer
Laboratoire d' hématologie, CH du MANS, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1119
Note 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).

  • Clinics and Pathology

    Disease 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.
    Epidemiology Rare
    Cytology Erythrophagocytosis by blasts cells is occasionally found but not marked.
    Prognosis probably poor


    Cytogenetics Morphological t(8;19) (p11;q13) is a variant of t(8;16) (p11;p13)
    Additional anomalies In one case association with trisomy 8

    Genes involved and Proteins

    Gene NameKAT6A (MYST histone acetyltransferase (monocytic leukemia) 3
    Location 8p11.21
    Note 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 ZNF220
    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 NameEP300 (E1A binding protein p300)
    Location 22q13.2
    Note Detection: FISH with the bacterial artificial chromosome clone H59D10
    Protein Adenoviral E1A-associated protein p300 with acethyltransferase activity

    Result of the chromosomal anomaly

    Hybrid gene
    Note Gene fusion MOZ/P300
    Description 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.
    Fusion Protein
    Description 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.
    Oncogenesis How the MOZ-p300 fusion protein is involved in acute leukemia is not known, but it probably affects the chromatin condensation.

    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.


    Abnormalities of chromosome band 8p11 in leukemia: two clinical syndromes can be distinguished on the basis of MOZ involvement.
    Aguiar RC, Chase A, Coulthard S, Macdonald DH, Carapeti M, Reiter A, Sohal J, Lennard A, Goldman JM, Cross NC
    Blood. 1997 ; 90 (8) : 3130-3135.
    PMID 9376594
    A complex t(3;8;17) involving breakpoint 8p11 in a case of M5 acute nonlymphocytic leukemia with erythrophagocytosis.
    Bertheas MF, Jaubert J, Vasselon C, Reynaud J, Pomier G, Le Petit JC, Hagemeijer A, Brizard CP
    Cancer genetics and cytogenetics. 1989 ; 42 (1) : 67-73.
    PMID 2790748
    MOZ is fused to p300 in an acute monocytic leukemia with t(8;22).
    Chaffanet M, Gressin L, Preudhomme C, Soenen-Cornu V, Birnbaum D, Pébusque MJ
    Genes, chromosomes & cancer. 2000 ; 28 (2) : 138-144.
    PMID 10824998
    Molecular cloning and functional analysis of the adenovirus E1A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor.
    Eckner R, Ewen ME, Newsome D, Gerdes M, DeCaprio JA, Lawrence JB, Livingston DM
    Genes & development. 1994 ; 8 (8) : 869-884.
    PMID 7523245
    A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia.
    Heim S, Avanzi GC, Billström R, Kristoffersson U, Mandahl N, Bekassy AN, Garwicz S, Wiebe T, Pegoraro L, Falda M
    British journal of haematology. 1987 ; 66 (3) : 323-326.
    PMID 3476150
    Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: a new specific subgroup?
    Laï JL, Zandecki M, Jouet JP, Savary JB, Lambiliotte A, Bauters F, Cosson A, Deminatti M
    Cancer genetics and cytogenetics. 1987 ; 27 (1) : 101-109.
    PMID 3472640
    Acute monocytic leukemia with (8;22)(p11;q13) translocation. Involvement of 8p11 as in classical t(8;16)(p11;p13).
    Lai JL, Zandecki M, Fenaux P, Preudhomme C, Facon T, Deminatti M
    Cancer genetics and cytogenetics. 1992 ; 60 (2) : 180-182.
    PMID 1606561
    [FGFR1 and MOZ, two key genes involved in malignant hemopathies linked to rearrangements within the chromosomal region 8p11-12]
    Pébusque MJ, Chaffanet M, Popovici C, Birnbaum D
    Bulletin du cancer. 2000 ; 87 (12) : 887-894.
    PMID 11174118
    Secondary acute monocytic leukemia with a translocation t(8;22)(p11;q13).
    Tasaka T, Nagai M, Matsuhashi Y, Uehara E, Tamura T, Ishida T, Kakazu N, Abe T
    Haematologica. 2002 ; 87 (5) : page ECR19.
    PMID 12010682


    This paper should be referenced as such :
    Boyer, J
    Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):90-91.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

    Genes KAT6A EP300

    Translocations implicated (Data extracted from papers in the Atlas)

     t(8;22)(p11;q13) KAT6A/EP300

    External links

    Mitelman databaset(8;22)(p11;q13)
    arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed
    All articlesautomatic search in PubMed

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