SET-NUP214融合基因在急性T淋巴细胞白血病患者中的表达及临床意义

本研究旨在探讨SET-NUP214融合基因在急性T淋巴细胞白血病(T-ALL)中的表达,分析伴有SET-NUP214的T-ALL的临床及分子生物学特征。运用RT-PCR检测58例T-ALL患者骨髓标本中SET-NUP214的表达,以间期荧光原位杂交(FISH)及微阵列比较基因组杂交(Array-CGH)检测9q34缺失,基因测序法检测PHF6和NOTCH1基因突变。结果表明,仅在6例T-ALL患者中检测到SET-NUP214融合基因的表达。除T系抗原标记外,这些患者均表达髓系抗原CD13和(或)CD33,其中4例患者经FISH检测到9q34缺失,3例患者经Array-CGH检测到del(9)(q34.11q34.33)。6例SET-NUP214阳性的T-ALL患者中有4例检测到PHF6基因突变,5例检测到NOTCH1基因突变。结论:SET-NUP214融合基因多由染色体9q34的缺失所致,SET-NUP214阳性的T-ALL常伴有PHF6及NOTCH1基因突变。

Expression of SET-NUP214 Fusion Gene in Patients with T-cell Acute Lymphoblastic Leukemia and Its Clinical Significance

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.