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[Expression of SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia and its clinical significance]
- Source :
- Zhongguo shi yan xue ye xue za zhi. 20(5)
- Publication Year :
- 2012
-
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.
- Subjects :
- Oncogene Proteins, Fusion
Reverse Transcriptase Polymerase Chain Reaction
Gene Expression
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
DNA-Binding Proteins
Nuclear Pore Complex Proteins
Repressor Proteins
Mutation
Humans
Histone Chaperones
Chromosome Deletion
Receptor, Notch1
Carrier Proteins
Chromosomes, Human, Pair 9
Transcription Factors
Subjects
Details
- ISSN :
- 10092137
- Volume :
- 20
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Zhongguo shi yan xue ye xue za zhi
- Accession number :
- edsair.pmid..........2025163e8b54119d06f353831d36400f