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JNCI Monographs 2008 2008(39):52-57; doi:10.1093/jncimonographs/lgn003
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© The Author 2008. Published by Oxford University Press.

Clinical Significance of the Most Common Chromosome Translocations in Adult Acute Myeloid Leukemia

Krzysztof Mrózek, Clara D. Bloomfield

Affiliation of authors: Division of Hematology and Oncology, Department of Internal Medicine, Comprehensive Cancer Center, The Arthur G. James Cancer Hospital, Richard J. Solove Research Institute, The Ohio State University, Columbus, OH

Correspondence to: Krzysztof Mrózek, MD, PhD, Division of Hematology and Oncology, Comprehensive Cancer Center, the Arthur G. James Cancer Hospital, Richard J. Solove Research Institute, Rm 1248B, The Ohio State University, 300 West Tenth Ave, Columbus, OH 43210-1228 (e-mail: krzysztof.mrozek{at}osumc.edu).

Acquired genetic alterations such as balanced and unbalanced chromosome aberrations and submicroscopic gene mutations and changes in gene expression strongly affect pretreatment features and prognosis of adults with acute myeloid leukemia (AML). The most frequent chromosome/molecular rearrangements, that is, t(8;21)(q22;q22)/RUNX1-RUNX1T1 and inv(16)(p13q22)/t(16;16)(p13;q22)/CBFB-MYH11 characteristic of core-binding factor (CBF) AML and t(15;17)(q22;q12~21)/PML-RARA characteristic of acute promyelocytic leukemia (APL), confer favorable clinical outcome when patients receive optimal treatment, that is, regimens that include high-dose cytarabine for CBF AML and all-trans-retinoic acid and/or arsenic trioxide for APL. Recently, mutations in such genes as KIT in CBF AML and FLT3 in APL have been correlated with clinical features and/or outcome of patients with these AML subtypes, and microarray gene expression profiling has been successfully used for diagnostic purposes and to provide biologic insights. These data underscore the value of genetic testing for common translocations for diagnosis, prognostication, and, increasingly, selecting therapy in acute leukemia.


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