2002-12-01   Kathleen E Richkind 

1.Genzyme Genetics, 2000 Vivigen Way, Santa Fe, NM 87505, USA

Clinics and Pathology


myeloid lineage, described in five cases :
  • myelodysplastic syndromes (MDS) to AML-M2 (two cases).
  • De novo acute myeloid leukemia (AML)-M2 (two cases).
  • Agnogenic myeloid metaplasia (AMM) (one case).
  • Epidemiology

    3F/2M, AGE 41-81 yrs (average = 67.8 yrs)


    Two patients with AML achieved complete remission.


    Additional anomalies

    The four patients with AML had no additional abnormalities; the patient with AMM also had an interstitial deletion of 13q. Metaphase FISH analysis was performed on the AMM patient, using whole chromosome paints for chromosomes 2 and 4. FISH revealed a complex insertion of chromosome 4 into chromosome 2, with resultant 2p23;4q31 fusion and deletion of 2p23->2pter.


    Metaphase FISH analysis of one patient with AML also suggested deletion of 2p23->2pter.

    Genes Involved and Proteins

    Deletion of 2p has been suggested as a recurrent abnormality in AML.


    Pubmed IDLast YearTitleAuthors
    17289491992Novel translocation (2;4) with consistent involvement of 2p23 in acute nonlymphocytic leukemia (M2).Farag S et al
    82425961993Translocation (2;4)(p23;q25): an additional case of a new recurrent anomaly in acute myeloid leukemia.Shi G et al
    120345352002del(2)(p23) as a sole abnormality in a case of acute myeloid leukemia.Sundareshan TS et al


    Kathleen E Richkind


    Atlas Genet Cytogenet Oncol Haematol. 2002-12-01

    Online version: http://atlasgeneticsoncology.org/haematological/1235/t(2;4)(p23;q25-q35)