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inv(8)(p11q13) KAT6A::NCOA2

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 1189
Note Two distinct clinical syndromes have been associated with the 8p11-12 region :
  • Stem-cell myeloproliferative disorder with FGFR1 rearrangement
  • AML M4 or M5 erythrophagocytosis-associated with MOZ rearrangement.
  • the inv(8)(p11q13) 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

  • Acute myelomonocytic or monocytic leukaemia (M4, M5a, M5b FAB) with erythrophagocytosis by blasts.
  • Acute myeloblastic leukemia M0/M1 FAB (one case).
  • Epidemiology Rare. Young age (6 patients, median : 23.5 years) and female sexe.
    Cytology Morphology feature observed in AML with t(8;16).
    Prognosis Probably poor.


    Cytogenetics Morphological Inv(8) (p11q13) is a variant of t(8;16) (p11;p13)
    Additional anomalies In one case der(10)t(1;10)(q25;p15)

    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 LAP/PHD-type zinc fingers.
    MOZ is a histone acetyltransferase (HAT) and the founding 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 NameNCOA2 (nuclear receptor coactivator 2)
    Location 8q13.3
    Note Aliases : GRIP1, NCoA-2.
    Nuclear receptors are ligand-inductible transcription factors with three structural domains : an activation function AF-1, a DNA-binding domain and a second activation function AF-2 that is mediated by nuclear coactivators (NRCoAs) : TIF2 was recently shown to be one such mediators of AF-2 function.
    Detection by FISH : PAC clone 192D10
    Protein The TIF-2 protein is homologous to other NRCoAs specically SRC-1 (alias NcoA-1). This protein have HAT activity and also interacts directly with CBP. It is likely that TIF-2 mediates transcriptional activation by a mechanism involving chromatin remodeling.

    Result of the chromosomal anomaly

    Hybrid gene
    Description The fusion gene produces a mRNA containing the 5¹ end of MOZ appended in translational frame to the 3¹ end of TIF2.
    The inv(8) MOZ breakpoint is distinct from the breakpoint in the MOZ -CBP fusion.
    The fusion product retains the zinc fingers, the HAT domain of MOZ along with the HAT domains and CBP interacting domain of TIF2.
    Fusion Protein
    Description MOZ-TIF2
    Oncogenesis The ability of HATs to affect the chromatin structure and regulate gene expression is well appreciated. How the MOZ-TIF2 fusion protein is involved in acute leukemia is not known, but it probably affects the chromatin condensation. It may modulate or augment the transcriptional activity of genes normaly regulated by MOZ or it may serve as a bridge between MOZ and CBP.
    Recently, it was demonstrated that MOZ-TIF2 has transforming properties in vitro and causes AML. The C2HC nucleosome recognition motif of MOZ and MOZ-TIF2 interaction with CBP are essential for transformation.

    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.
    Case Report inv(8)(p11.2q13) found in a patient with chronic myelomonocytic leukemia that progressed to acute myeloid leukemia


    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 novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia.
    Carapeti M, Aguiar RC, Goldman JM, Cross NC
    Blood. 1998 ; 91 (9) : 3127-3133.
    PMID 9558366
    MOZ-TIF2-induced acute myeloid leukemia requires the MOZ nucleosome binding motif and TIF2-mediated recruitment of CBP.
    Deguchi K, Ayton PM, Carapeti M, Kutok JL, Snyder CS, Williams IR, Cross NC, Glass CK, Cleary ML, Gilliland DG
    Cancer cell. 2003 ; 3 (3) : 259-271.
    PMID 12676584
    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
    [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


    This paper should be referenced as such :
    Boyer, J
    Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):83-84.
    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)

     inv(8)(p11q13) KAT6A/NCOA2

    External links

    KAT6A (8p11.21) NCOA2 (8q13.3)

    KAT6A (8p11.21) NCOA2 (8q13.3)

    Mitelman databaseinv(8)(p11q13)
    arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
    Mitelman databaseKAT6A::NCOA2 [MCList]  KAT6A (8p11.21) NCOA2 (8q13.3)
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed
    All articlesautomatic search in PubMed

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