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. 2016 Apr;11(4):2644-2650.
doi: 10.3892/ol.2016.4260. Epub 2016 Feb 23.

B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: A case report and review of the literature

Hong-Hu Zhu  1 , Xiao-Su Zhao  1 , Ya-Zhen Qin  1 , Yue-Yun Lai  1 , Hao Jiang  1
Affiliations

B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: A case report and review of the literature

Hong-Hu Zhu et al. Oncol Lett. 2016 Apr.

Abstract

The SET nuclear proto-oncogene (SET)-nucleoporin (NUP)214 fusion gene, which results from cryptic t(9;9)(q34;q34) or del(9)(q34.11q34.13), is a rare genetic event in hematological malignancies. The majority of patients carrying SET-NUP214 experience T-cell acute lymphoblastic leukemia (T-ALL), but rarely experience acute undifferentiated leukemia or acute myeloid leukemia. The current study presents the case of a 19-year-old male patient with B-cell ALL (B-ALL) carrying the SET-NUP214 fusion gene, in addition to an fms-related tyrosine kinase 3-internal tandem duplication mutation and a complex karyotype abnormality. The patient exhibited chemotherapy resistance. To the best of our knowledge, the present study is the first report of a case of B-ALL carrying the SET-NUP214 fusion gene, and provides a review of the literature.

Keywords: SET-NUP214; acute lymphoblastic leukemia; treatment.

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