Abstract for presentation at 11th International Congress of Human Genetics

Cytogenetic Review of Paediatric AML over 7 Consecutive Years

  • Arabella Smith, Department of Cytogenetics, Children's Hospital at Westmead, Australia
  • Praveen Sharma, Department of Cytogenetics, Children's Hospital at Westmead, Australia
  • Sara Diaz, Department of Cytogenetics, Children's Hospital at Westmead, Australia
  • Lyra Pearson, Department of Oncology, Children's Hospital at Westmead, Australia
  • Peter Shaw, Department of Oncology, Children's Hospital at Westmead, Australia

    • Cytogenetic studies in acute leukaemia are numerous, largely covering myeloid leukaemia (AML) in adults or lymphoblastic leukaemia (ALL) in children, based on their respective frequency. Published results in well defined cohorts of paediatric AML are few, although there are many case reports.
    We reviewed all children with a diagnosis of AML from 1.1.99 to 31.12.05 seen at the Children’s Hospital. Of a total of 59 children - 35 (59%) males and 24 (41%) females, aged 2 months to 16 years - 6 had constitutional trisomy 21 and 5 had secondary AML (one had both). Bone marrow cytogenetics at diagnosis showed an overall abnormality rate of 72%. The 5 cases of secondary AML all had an acquired abnormal karyotype, as did 4/6 patients with trisomy 21. Of the 15 patients who died, 8 had had a bone marrow transplant. Considering the 48 phenotypically normal children with primary AML, 14 had a normal karyotype and 34 were abnormal; 5/14 died (36%) compared with 6/34 (18%). Cytogenetically, 23 abnormals (68%) fell into the common, well studied, non random groups, while a susbstantial number - 11 (32%) - were complex and/or novel abnormalities. All FAB groups were present, the commonest being FAB4. The study has shown that we are still far from understanding the significance of cytogenetic abnormalities in paediatric AML and that many factors contribute to the prognosis.

    Conference Organiser - ICMS Pty Ltd