Open Access

A novel variant translocation (1;9)(p22;q34) resulting in a DEK/NUP214 fusion gene in a patient with acute myeloid leukemia: A case report

  • Authors:
    • Qishan Hao
    • Qi Zhang
    • Chengwen Li
    • Shuning Wei
    • Qinghua Li
    • Yang Song
    • Yingchang Mi
  • View Affiliations

  • Published online on: October 3, 2017     https://doi.org/10.3892/ol.2017.7133
  • Pages:7021-7024
  • Copyright: © Hao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The present case report describes a 46‑year‑old female patient diagnosed with M4 acute myeloid leukemia (AML), accompanied with a t(1;9)(p22;q34) chromosomal abnormality. Transcriptome sequencing identified a DEK proto‑oncogene (DEK)/nucleoporin (NUP)214 fusion gene, which results from the t(6;9)(p23;q34) chromosomal translocation. Polymerase chain reaction analysis and fluorescence in situ hybridization were used to verify the existence of the DEK/NUP214 fusion gene. Few patients with AML with the t(6;9)(p23;q34) chromosomal translocation have been reported to have other chromosomal or karyotype changes. To our knowledge, no AML patient with the DEK/NUP214fusion gene but without the classic t(6;9)(p23;q34) translocations had been reported until now. The prognosis of AML cases with the DEK/NUP214 fusion gene is poor. The rate of complete remission is ~65% (71% in children, 58% in adult patients), while the estimated 5‑year survival rate is 28% for children and 9% for adults. The 2008 revision of World Health Organization classification have defined the DEK/NUP214 mutation as a recurrent genetic abnormality of AML. The overall survival of the patient in the current report was ~29 months, and they relapsed twice. To the best of our knowledge, this is the first report of at(1;9)(p22;q34) variant translocation that results in expression of the DEK/NUP214 fusion gene.

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December 2017
Volume 14 Issue 6

Print ISSN: 1792-1074
Online ISSN:1792-1082

2016 Impact Factor: 1.39
Ranked #68/217 Oncology
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APA
Hao, Q., Zhang, Q., Li, C., Wei, S., Li, Q., Song, Y., & Mi, Y. (2017). A novel variant translocation (1;9)(p22;q34) resulting in a DEK/NUP214 fusion gene in a patient with acute myeloid leukemia: A case report. Oncology Letters, 14, 7021-7024. https://doi.org/10.3892/ol.2017.7133
MLA
Hao, Q., Zhang, Q., Li, C., Wei, S., Li, Q., Song, Y., Mi, Y."A novel variant translocation (1;9)(p22;q34) resulting in a DEK/NUP214 fusion gene in a patient with acute myeloid leukemia: A case report". Oncology Letters 14.6 (2017): 7021-7024.
Chicago
Hao, Q., Zhang, Q., Li, C., Wei, S., Li, Q., Song, Y., Mi, Y."A novel variant translocation (1;9)(p22;q34) resulting in a DEK/NUP214 fusion gene in a patient with acute myeloid leukemia: A case report". Oncology Letters 14, no. 6 (2017): 7021-7024. https://doi.org/10.3892/ol.2017.7133