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目的检测成人急性淋巴细胞白血病(ALL)ETV6基因重排情况并探讨其临床意义。方法用Split-signalFISH技术检测32例初治及复发的成人急性淋巴细胞白血病患者骨髓样本ETV6基因重排情况,阳性样本行巢式RT-PCR证实融合基因形成。结果 FISH检测出1例ETV6易位样本,常规染色体检查为正常核型,RT-PCR证实形成ETV6-RUNX1融合基因。该患者为复发难治性白血病,复发后产生耐药,于确诊9个月后死亡。结论FISH检测ETV6基因重排较常规染色体核型分析更敏感。成人ALL中ETV6-RUNX1表达率低,可能与ALL复发患者的不良预后有关。
Objective To detect the status of ETV6 gene rearrangement in adults with acute lymphoblastic leukemia (ALL) and to investigate its clinical significance. Methods The bone marrow samples ETV6 gene rearrangement in 32 patients with newly diagnosed and relapsed adult acute lymphoblastic leukemia was detected by Split-signal FISH. The positive samples were confirmed by nested RT-PCR to confirm the formation of fusion gene. Results One case of ETV6 translocation was detected by FISH and the normal chromosome was checked by normal chromosome. The ETV6-RUNX1 fusion gene was confirmed by RT-PCR. The patient is relapsed and refractory leukemia, relapse after the emergence of resistance, died after 9 months of diagnosis. Conclusion The FISH detection of ETV6 gene rearrangement is more sensitive than conventional chromosome karyotype analysis. The low expression of ETV6-RUNX1 in adult ALL may be related to the poor prognosis of patients with ALL relapse.