title: [Expression of SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia and its clinical significance].
abstract: This study was aimed to investigate the occurrence and clinical significance of the SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia (T-ALL), analyse clinical and biological characteristics in this disease. RT-PCR was used to detect the expression of SET-NUP214 fusion gene in 58 T-ALL cases. Interphase FISH and Array-CGH were used to detect the deletion of 9q34. Direct sequencing was applied to detect mutations of PHF6 and NOTCH1. The results showed that 6 out of 58 T-ALL cases (10.3%) were detected to have the SET-NUP214 fusion gene by RT-PCR. Besides T-lineage antigens, expression of CD13 and(or) CD33 were detected in all the 6 cases. Deletions of 9q34 were detected in 4 out of the 6 patients by FISH. Array-CGH results of 3 SET-NUP214 positive T-ALL patients confirmed that this fusion gene was resulted from a cryptic deletion of 9q34.11q34.13. PHF6 and NOTCH1 gene mutations were found in 4 and 5 out of 6 SET-NUP214 positive T-ALL patients, respectively. It is concluded that SET-NUP214 fusion gene is often resulted from del(9)(q34). PHF6 and NOTCH1 mutations may be potential leukemogenic event in SET-NUP214 fusion gene.
authors.affiliation: Jiangsu Institute of Hematology, Suzhou, Jiangsu Province, China.
authors.forename: Hai-Ping
authors.initials: HP
authors.lastname: Dai
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.forename: Li-Li
authors.initials: LL
authors.lastname: Wu
authors.forename: Na-Na
authors.initials: NN
authors.lastname: Ping
authors.forename: Chun-Xiao
authors.initials: CX
authors.lastname: Wu
authors.forename: Jun-Dan
authors.initials: JD
authors.lastname: Xie
authors.forename: Jin-Lan
authors.initials: JL
authors.lastname: Pan
authors.forename: Yong-Quan
authors.initials: YQ
authors.lastname: Xue
authors.forename: De-Pei
authors.initials: DP
authors.lastname: Wu
authors.forename: Su-Ning
authors.initials: SN
authors.lastname: Chen
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004268:DNA-Binding Proteins; D015870:Gene Expression; D056488:Histone Chaperones / Q000235:genetics*; D006801:Humans; D009154:Mutation; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D051881:Receptor, Notch1 / Q000235:genetics; D012097:Repressor Proteins; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D056488:Histone Chaperones; C497761:NOTCH1 protein, human; C085914:NUP214 protein, human; D028861:Nuclear Pore Complex Proteins; D015514:Oncogene Proteins, Fusion; C502542:PHF6 protein, human; D051881:Receptor, Notch1; D012097:Repressor Proteins; C513473:SET protein, human; D014157:Transcription Factors