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Expression of SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia and its clinical significance / 中国实验血液学杂志
Journal of Experimental Hematology ; (6): 1047-1051, 2012.
Article in Zh | WPRIM | ID: wpr-278438
Responsible library: WPRO
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.
Subject(s)
Full text: 1 Database: WPRIM Main subject: Transcription Factors / Chromosomes, Human, Pair 9 / Carrier Proteins / Gene Expression / Oncogene Proteins, Fusion / Chromosome Deletion / Reverse Transcriptase Polymerase Chain Reaction / Nuclear Pore Complex Proteins / Receptor, Notch1 / Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Limits: Humans Language: Zh Journal: Journal of Experimental Hematology Year: 2012 Document type: Article
Full text: 1 Database: WPRIM Main subject: Transcription Factors / Chromosomes, Human, Pair 9 / Carrier Proteins / Gene Expression / Oncogene Proteins, Fusion / Chromosome Deletion / Reverse Transcriptase Polymerase Chain Reaction / Nuclear Pore Complex Proteins / Receptor, Notch1 / Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Limits: Humans Language: Zh Journal: Journal of Experimental Hematology Year: 2012 Document type: Article