Expression of SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia and its clinical significance.
- Author:
Hai-Ping DAI
1
;
Qian WANG
;
Li-Li WU
;
Na-Na PING
;
Chun-Xiao WU
;
Jun-Dan XIE
;
Jin-Lan PAN
;
Yong-Quan XUE
;
De-Pei WU
;
Su-Ning CHEN
Author Information
1. Jiangsu Institute of Hematology, Suzhou, Jiangsu Province, China.
- Publication Type:Journal Article
- MeSH:
Carrier Proteins;
genetics;
Chromosome Deletion;
Chromosomes, Human, Pair 9;
genetics;
Gene Expression;
Histone Chaperones;
genetics;
Humans;
Mutation;
Nuclear Pore Complex Proteins;
genetics;
Oncogene Proteins, Fusion;
genetics;
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma;
genetics;
Receptor, Notch1;
genetics;
Reverse Transcriptase Polymerase Chain Reaction;
Transcription Factors;
genetics
- From:
Journal of Experimental Hematology
2012;20(5):1047-1051
- CountryChina
- Language:Chinese
-
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.
