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A retrospective study of 69 patients with t(6;9)(p23;q34) AML emphasizes the need for a prospective, multicenter initiative for rare ‘poor prognosis’ myeloid malignancies

Leukemia volume 20, pages 1295–1297 (2006)Cite this article

t(6;9)(p23;q34) is a rare recurring cytogenetic aberration resulting in the formation of a chimeric DEK/NUP214 (formerly DEK/CAN) fusion gene on the der(6) chromosome. This translocation has been reported in de novo acute myeloid leukemia (AML), AML preceded by myelodysplastic syndromes (MDS), and in AML which has evolved following prior chemotherapy exposure.1, 2, 3, 4 Given the rarity of this particular subgroup of AML, previous reports attempting to describe the incidence, associated clinical features, and prognosis have been based on small patient cohorts, leaving some uncertainty about the nature of t(6;9) AML.1, 2, 3, 4 In order to better define this syndrome, a retrospective study of five Cooperative Groups databases (Southwest Oncology Group (SWOG), Cancer and Leukemia Group B (CALGB), Eastern Cooperative Oncology Group (ECOG), Childrens Oncology Group (COG) including the Pediatric Oncology Group (POG) and Children's Cancer Group (CCG)) was conducted.

Data from patients enrolled on 20 treatment-completed protocols during 1987 to 2002 were collected. Sixty-nine cases (0.9%) of AML or MDS patients with the t(6;9) cytogenetic abnormality were identified among 7690 patients with evaluable karyotypes. Clinical and pretreatment laboratory features for t(6;9) patients are presented in Table 1; ages ranged from 2 to 66 years (median=23), emphasizing the younger age usually associated with t(6;9) AML.1 Of 5454 patients on studies for adults, 38 (0.7%) had t(6;9) compared to 31 (1.4%) of 2236 on pediatric studies. The relatively high percentage of children in this analysis, compared with the general population, likely reflects the fact that more children are enrolled on US clinical protocols than adult patients. Moreover, the apparent male predominance in the adult cohort (71%) was not found to be statistically significant (P=0.06). The 6;9 translocation was the sole clonal karyotypic aberration in 61 of 69 patients (88%); only four pediatric and four adult cases (12%) had secondary anomalies. Three patients (5%) had complex translocations involving three or four chromosomes (46,XX,t(3;6;9)(p21;p23;q34); 46,XY,t(6;22;9)(p23;q11.2;q34); 46,XY,der(6)(9q34 → 9q34::6p23 → cen → 6q15::6p25 → 6p25),der(9)(9pter → cen → 9q34::6p23 → 6p25::6q15 → 6qter)); an incidence similar to other common leukemia translocations.1

Table 1 Clinical, pathological, and outcome data of t(6;9) AML patients
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Acknowledgements

We thank all clinicians and scientists who contributed the material for this study. This study was supported in part by the following PHS Cooperative Agreement grant numbers awarded by the National Cancer Institute, DHHS: CA32102, CA21115, CA31946, CA33601, CA41287, CA77658, CA101140, CA13539, CA98543, CA30969, K23 CA92405, and The Leukemia Clinical Research Foundation.

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  1. M L Slovak and H Gundacker: These authors contributed equally to this work

Authors and Affiliations

  1. Leukemia and Cytogenetics Committees for the Southwest Oncology Group, San Antonio, TX, USA

    M L Slovak, H Gundacker, F R Appelbaum, J M Bennett, D L Stirewalt & C L Willman

  2. Leukemia and Cytogenetics Committees for the Cancer and Leukemia Group B, Chicago, IL, USA

    C D Bloomfield, R A Larson & A J Carroll

  3. Leukemia and Cytogenetics Committees for the Eastern Cooperative Oncology Group, Boston, MA, USA

    G Dewald & M S Tallman

  4. Leukemia and Cytogenetics Committees for the Children's Oncology Group, Arcadia, CA, USA

    S Meshinchi, Y Ravindranath, T A Alonzo, S C Raimondi & N A Heerema

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Slovak, M., Gundacker, H., Bloomfield, C. et al. A retrospective study of 69 patients with t(6;9)(p23;q34) AML emphasizes the need for a prospective, multicenter initiative for rare ‘poor prognosis’ myeloid malignancies. Leukemia 20, 1295–1297 (2006). https://doi.org/10.1038/sj.leu.2404233

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