title: Del (9q) AML: clinical and cytological characteristics and prognostic implications.
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.
authors.affiliation: Leukaemia Research Fund Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK. andy.peniket@orh.nhs.uk
authors.forename: Andrew
authors.initials: A
authors.lastname: Peniket
authors.forename: James
authors.initials: J
authors.lastname: Wainscoat
authors.forename: Lucy
authors.initials: L
authors.lastname: Side
authors.forename: Sarah
authors.initials: S
authors.lastname: Daly
authors.forename: Rajko
authors.initials: R
authors.lastname: Kusec
authors.forename: Georgina
authors.initials: G
authors.lastname: Buck
authors.forename: Keith
authors.initials: K
authors.lastname: Wheatley
authors.forename: Helen
authors.initials: H
authors.lastname: Walker
authors.forename: Steve
authors.initials: S
authors.lastname: Chatters
authors.forename: Christine
authors.initials: C
authors.lastname: Harrison
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Boultwood
authors.forename: Anthony
authors.initials: A
authors.lastname: Goldstone
authors.forename: Alan
authors.initials: A
authors.lastname: Burnett
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D001854:Bone Marrow Cells / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D020732:Cytogenetic Analysis; D018572:Disease-Free Survival; D005260:Female; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor; D005819:Genetic Markers; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D008297:Male; D008875:Middle Aged; D015996:Survival Rate; D014178:Translocation, Genetic
chemical_list: D005819:Genetic Markers