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

Peniket, Andrew, Wainscoat, James, Side, Lucy, Daly, Sarah, Kusec, Rajko, Buck, Georgina, Wheatley, Keith, Walker, Helen, Chatters, Steve, Harrison, Christine, Boultwood, Jacqueline, Goldstone, Anthony and Burnett, Alan (2005) Del (9q) AML: clinical and cytological characteristics and prognostic implications. British Journal of Haematology, 129 (2), 210-220. (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.

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