1. 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.
- Author
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Qishan Hao, Qi Zhang, Chengwen Li, Shuning Wei, Qinghua Li, Yang Song, and Yingchang Mi
- Subjects
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ACUTE myeloid leukemia diagnosis , *CHROMOSOME abnormalities , *POLYMERASE chain reaction methodology , *NUCLEOPORINS , *DIAGNOSTIC use of in-situ hybridization , *DIAGNOSIS - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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