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Cytogenetics and Molecular Genetics

AML with translocation t(8;16)(p11;p13) demonstrates unique cytomorphological, cytogenetic, molecular and prognostic features

Leukemia volume 23, pages 934–943 (2009)Cite this article

Abstract

Balanced chromosomal rearrangements define distinct entities in acute myeloid leukemia (AML). Here, we present 13 AML cases with t(8;16)(p11;p13) with observed low incidence (13/6124 patients), but more frequent presentation in therapy-related AML than in de novo AML (7/438 versus 6/5686, P=0.00001). Prognosis was poor with median overall survival of 4.7 months. Cytomorphology was characterized by parallel positive myeloperoxidase and non-specific esterase staining, therefore, French–American–British (FAB)-classification was impossible and origin of the AML with t(8;16) from an early stem cell with myeloid and monoblastic potential is hypothesized. Erythrophagocytosis was observed in 7/13 cases. Using gene expression profiling on 407 cases, patients with t(8;16) were compared to AML FAB subtypes with normal karyotype. Principal component analyses demonstrated that AML with t(8;16) were distinct from FAB subtypes M1, M4, M5a/b. When further compared to AML showing balanced rearrangements, that is, current WHO categories t(15;17), t(8;21), inv(16) and t(11q23)/MLL, AML with t(8;16) cases were clustered close to t(11q23)/MLL sharing commonly expressed genes. Subsequently, a pairwise comparison discriminated AML with t(8;16) from AML with t(11q23)/MLL, thus defining a highly unique signature for AML with t(8;16). In conclusion, AML with t(8;16) demonstrates unique cytomorphological, cytogenetic, molecular and prognostic features and is a specific subtype of AML.

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Acknowledgements

This study was supported in part by a grant from the German José Carreras Foundation (DJCS-R00/13). Microarray analyses were further supported in part by Roche Diagnostics GmbH, Penzberg, Germany and Roche Molecular Systems, Pleasanton, CA, USA.

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Author notes

  1. H Löffler: Dr H Löffler is a Professor Emeritus in retirement.

  2. T Haferlach and A Kohlmann: These authors contributed equally to this work.

Authors and Affiliations

  1. MLL Munich Leukemia Laboratory, Munich, Germany

    T Haferlach, A Kohlmann, W Kern, S Schnittger & C Haferlach

  2. Department of Medical Informatics and Biomathematics, University of Münster, M, ü, nster, Germany

    H-U Klein, C Ruckert & M Dugas

  3. Department of Genomics and Oncology, Roche Molecular Systems Inc., Pleasanton, CA, USA

    P M Williams

  4. Department of Stem Cell Transplantation, University Cancer Center Hamburg, Hamburg, Germany

    U Bacher

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  1. T Haferlach
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Haferlach, T., Kohlmann, A., Klein, HU. et al. AML with translocation t(8;16)(p11;p13) demonstrates unique cytomorphological, cytogenetic, molecular and prognostic features. Leukemia 23, 934–943 (2009). https://doi.org/10.1038/leu.2008.388

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