Adult acute myeloid leukemia with trisomy 11 as the sole abnormality is characterized by the presence of five distinct gene mutations: MLL-PTD, DNMT3A, U2AF1, FLT3-ITD and IDH2

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

Figure 1


  1. 1

    Mitelman F, Johansson B, Mertens F (eds). Mitelman database of chromosome aberrations and gene fusions in cancer, 2016. Available at: (accessed 22 February 2016).

  2. 2

    Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH et al. Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood 2010; 116: 354–365.

  3. 3

    Byrd JC, Mrózek K, Dodge RK, Carroll AJ, Edwards CG, Arthur DC et al. Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461). Blood 2002; 100: 4325–4336.

  4. 4

    Heinonen K, Mrózek K, Lawrence D, Arthur DC, Pettenati MJ, Stamberg J et al. Clinical characteristics of patients with de novo acute myeloid leukaemia and isolated trisomy 11: a Cancer and Leukemia Group B study. Br J Haematol 1998; 101: 513–520.

  5. 5

    Caramazza D, Ketterling RP, Knudson RA, Hanson CA, Siragusa S, Pardanani A et al. Trisomy 11: prevalence among 22,403 unique patient cytogenetic studies and clinical correlates [letter]. Leukemia 2010; 24: 1092–1094.

  6. 6

    Alseraye FM, Zuo Z, Bueso-Ramos C, Wang S, Medeiros LJ, Lu G. Trisomy 11 as an isolated abnormality in acute myeloid leukemia is associated with unfavorable prognosis but not with an NPM1 or KIT mutation. Int J Clin Exp Pathol 2011; 4: 371–377.

  7. 7

    Caligiuri MA, Strout MP, Schichman SA, Mrózek K, Arthur DC, Herzig GP et al. Partial tandem duplication of ALL1 as a recurrent molecular defect in acute myeloid leukemia with trisomy 11. Cancer Res 1996; 56: 1418–1425.

  8. 8

    Steudel C, Wermke M, Schaich M, Schäkel U, Illmer T, Ehninger G et al. Comparative analysis of MLL partial tandem duplication and FLT3 internal tandem duplication mutations in 956 adult patients with acute myeloid leukemia. Genes Chromosomes Cancer 2003; 37: 237–251.

  9. 9

    Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo myeloid leukemia. N Engl J Med 2013; 368: 2059–2074.

  10. 10

    Graubert TA, Shen D, Ding L, Okeyo-Owuor T, Lunn CL, Shao J et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet 2011; 44: 53–57.

  11. 11

    Abu Kar S, Jankowska A, Makishima H, Visconte V, Jerez A, Sugimoto Y et al. Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia. Haematologica 2013; 98: 107–113.

  12. 12

    Herold T, Metzeler KH, Vosberg S, Hartmann L, Röllig C, Stölzel F et al. Isolated trisomy 13 defines a homogeneous AML subgroup with high frequency of mutations in spliceosome genes and poor prognosis. Blood 2014; 124: 1304–1311.

  13. 13

    Caligiuri MA, Strout MP, Oberkircher AR, Yu F, de la Chapelle A, Bloomfield CD . The partial tandem duplication of ALL1 in acute myeloid leukemia with normal cytogenetics or trisomy 11 is restricted to one chromosome. Proc Natl Acad Sci USA 1997; 94: 3899–3902.

  14. 14

    Whitman SP, Liu S, Vukosavljevic T, Rush LJ, Yu L, Liu C et al. The MLL partial tandem duplication: evidence for recessive gain of function in acute myeloid leukemia identifies a novel patient subgroup for molecular-targeted therapy. Blood 2005; 106: 345–352.

  15. 15

    Kao H-W, Liang D-C, Kuo M-C, Wu J-H, Dunn P, Wang P-N et al. High frequency of additional gene mutations in acute myeloid leukemia with MLL partial tandem duplication: DNMT3A mutation is associated with poor prognosis. Oncotarget 2015; 6: 33217–33225.

Download references


The authors are grateful to the patients who consented to participate in these clinical trials and the families who supported them; to Donna Bucci and the CALGB/Alliance Leukemia Tissue Bank at The Ohio State University Comprehensive Cancer Center, Columbus, OH, for sample processing and storage services; and to Lisa J. Sterling and Chris Finks for data management. This work was supported in part by the National Cancer Institute (grants CA180821 and CA180882 (to the Alliance for Clinical Trials in Oncology), CA140158, CA180861, CA196171, CA180850, CA16058 and CA77658), the Coleman Leukemia Research Foundation, the Warren D. Brown Foundation, the Pelotonia Fellowship Program (A-KE), and by an allocation of computing resources from The Ohio Supercomputer Center.

Author contributions

A-KE, JK, KM, JCB, and CDB contributed to the study design; A-KE, JK, KM, AdlC and CDB contributed to the data interpretation, A-KE, JK, KM and CDB wrote the manuscript; A-KE and SO performed laboratory-based research; JSB and KK performed the data processing; JK and DN performed statistical analysis; AJC, RMS, KM and CDB were involved directly or indirectly in the care of patients and/or sample procurement. All authors read and agreed on the final version of the manuscript.

Author information

Correspondence to A-K Eisfeld or C D Bloomfield.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Additional information

Supplementary Information accompanies this paper on the Leukemia website

Supplementary information

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Eisfeld, A., Kohlschmidt, J., Mrózek, K. et al. Adult acute myeloid leukemia with trisomy 11 as the sole abnormality is characterized by the presence of five distinct gene mutations: MLL-PTD, DNMT3A, U2AF1, FLT3-ITD and IDH2. Leukemia 30, 2254–2258 (2016) doi:10.1038/leu.2016.196

Download citation

Further reading