Del (9q) AML: clinical and cytological characteristics and prognostic implications

Br J Haematol. 2005 Apr;129(2):210-20. doi: 10.1111/j.1365-2141.2005.05445.x.

Abstract

Del (9q) is a recurrent cytogenetic abnormality in acute myeloid leukaemia (AML). We report an analysis of 81 patients with del(9q) as a diagnostic karyotypic abnormality entered into the Medical Research Council AML trials 10, 11 and 12. Patients were divided into three groups: (i) Sole del (9q), 21 patients; (ii) Del(9q) in association with t(8;21), 29 patients; (iii) Del(9q) in association with other cytogenetic abnormalities, 31 patients. Sole del(9q) was associated with a characteristic bone marrow phenotype at diagnosis: a single Auer rod was found in all cases examined. There was also an association with erythroid dysplasia (74%) and granylocytic lineage vacuolation (90%). The incidence of all three of these features was significantly higher (P < 0.05) in the sole del(9q) group compared with control cases lacking del(9q). The overall survival (OS) of all 81 patients was compared with a control group of 1738 patients with normal cytogenetics entered in the same trials over the period of investigation. The 5-year OS for patients with del(9q) was 45%, compared with 35% for the control group (P = 0.09). Patients with del(9q) in association with t(8;21) had a 5-year OS of 75%, which was significantly better than the groups with either sole del(9q) (40%) and del(9q) with other abnormalities (26%; P = 0.008). Karyotyping indicated a common area of deletion in the region 9q21-22, which was present in 94% of cases. It is likely that the deletion of single or multiple tumour suppressor genes located in this region may underlie the pathogenesis of del (9q) AML.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Adolescent
  • Adult
  • Aged
  • Bone Marrow Cells / pathology
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 21
  • Chromosomes, Human, Pair 8
  • Cytogenetic Analysis
  • Disease-Free Survival
  • Female
  • Gene Deletion*
  • Genes, Tumor Suppressor*
  • Genetic Markers
  • Humans
  • Leukemia, Myeloid / genetics*
  • Leukemia, Myeloid / mortality
  • Leukemia, Myeloid / pathology
  • Male
  • Middle Aged
  • Survival Rate
  • Translocation, Genetic

Substances

  • Genetic Markers