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

2003-12-01   Jacques Boyer 

1.Laboratoire d hématologie, CH du MANS, France

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 (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 description
    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 partner of MOZ is unknown in this translocation.
    Location
    19q13

    Result of the Chromosomal Anomaly

    Note

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

    Bibliography

    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
    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
    111741182000[FGFR1 and MOZ, two key genes involved in malignant hemopathies linked to rearrangements within the chromosomal region 8p11-12].Pébusque MJ et al
    75961491995A 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 et al

    Summary

    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).

  • Citation

    Jacques Boyer

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

    Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

    Online version: http://atlasgeneticsoncology.org/haematological/1315/t(8;19)(p11;q13)

    External Links