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t(8;19)(p11;q13) KAT6A/?

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

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1315
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.
  • This t(8;19)(p11;q13) with MOZ involvement should not be confused with the t(8;19)(p11;q13) with FGFR1 involvement found in the stem-cell myeloproliferative disorder.

    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 leukaemia (M4, M5a, M5b) associated with erythrophagocytosis by blasts noted to various degree.
    Epidemiology Rare
    Cytology Morphology feature observed in AML with t(8;16).
    Prognosis probably poor

    Cytogenetics

    Cytogenetics Morphological t(8;19) (p11;q13) is a variant of t(8;16) (p11;p13)
    Additional anomalies Two cases :
  • 46,XX,t(8;19)(p11;q13.2)/idem,-16,-16q+
  • 46,XX, t(8;19)(p11;q13) sole anomaly

    • Genes involved and Proteins

    Gene Name KAT6A
    Location 8p11
    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 Name The
    Location 19q13

    Result of the chromosomal anomaly

    Fusion Protein
    Note In the t(8 ;19) the fusion protein is unknown.
      

    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.

    Bibliography

    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
     
    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
     
    A distinct subtype of M4/M5 acute myeloblastic leukemia (AML) associated with t(8:16)(p11:p13), in a patient with the variant t(8:19)(p11:q13)--case report and review of the literature.
    Stark B, Resnitzky P, Jeison M, Luria D, Blau O, Avigad S, Shaft D, Kodman Y, Gobuzov R, Ash S
    Leukemia research. 1995 ; 19 (6) : 367-379.
    PMID 7596149
     

    Citation

    This paper should be referenced as such :
    Boyer, J
    t(8;19)(p11;q13)
    Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):88-89.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Anomalies/t0819p11q13ID1315.html

    Translocations implicated (Data extracted from papers in the Atlas)

     t(8;19)(p11;q13) KAT6A/?

    External links

    Mitelman databaset(8;19)(p11;q13) [Case List]    t(8;19)(p11;q13) [Association List] Mitelman database (CGAP - NCBI)
    arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
     
     
    Disease databaset(8;19)(p11;q13) KAT6A/?
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed
    All articlesautomatic search in PubMed


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