Del (9q) AML: clinical and cytological characteristics and prognostic implications.
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.
Peniket
Andrew
A
Leukaemia Research Fund Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK. andy.peniket@orh.nhs.uk
Wainscoat
James
J
Side
Lucy
L
Daly
Sarah
S
Kusec
Rajko
R
Buck
Georgina
G
Wheatley
Keith
K
Walker
Helen
H
Chatters
Steve
S
Harrison
Christine
C
Boultwood
Jacqueline
J
Goldstone
Anthony
A
Burnett
Alan
A
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
D005819:Genetic Markers