Complex and monosomal karyotype are distinct cytogenetic entities with an adverse prognostic impact in paediatric acute myeloid leukaemia. A NOPHO-DBH-AML study

Ninna Bager, Kristian L. Juul-Dam, Julie D. Sandahl, Jonas Abrahamsson, Berna Beverloo, Eveline S. J. M. de Bont, Shau-Yin Ha, Kirsi Jahnukainen, Ólafur G. Jónsson, Gertjan L. Kaspers, Zhanna Kovalova, Birgitte Lausen, Barbara de Moerloose, Ulrika Noren-Nyström, Josefine Palle, Kadri Saks, Bernward Zeller, Eigil Kjeldsen, Henrik Hasle

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Data on occurrence, genetic characteristics and prognostic impact of complex and monosomal karyotype (CK/MK) in children with acute myeloid leukaemia (AML) are scarce. We studied CK and MK in a large unselected cohort of childhood AML patients diagnosed and treated according to Nordic Society for Paediatric Haematology and Oncology (NOPHO)-AML protocols 1993–2015. In total, 800 patients with de novo AML were included. CK was found in 122 (15%) and MK in 41 (5%) patients. CK and MK patients were young (median age 2·1 and 3·3 years, respectively) and frequently had FAB M7 morphology (24% and 22%, respectively). Refractory disease was more common in MK patients (15% vs. 4%) and stem cell transplantation in first complete remission was more frequent (32% vs. 19%) compared with non-CK/non-MK patients. CK showed no association with refractory disease but was an independent predictor of an inferior event-free survival (EFS; hazard ratio [HR] 1·43, P = 0·03) and overall survival (OS; HR 1·48, P = 0·01). MK was associated with a poor EFS (HR 1·57, P = 0·03) but did not show an inferior OS compared to non-MK patients (HR 1·14, P = 0·62). In a large paediatric cohort, we characterized AML with non-recurrent abnormal karyotype and unravelled the adverse impact of CK and MK on prognosis.
Original languageEnglish
Pages (from-to)618-628
JournalBritish journal of haematology
Issue number4
Publication statusPublished - 2018

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