Liu Bei, Zhang Wei, Ma Haizhen
Department of Hematology, The First Affiliated Hospital, Lanzhou University, Lanzhou, Gansu 730000, P.R. China.
Central Laboratory, The First Affiliated Hospital, Lanzhou University, Lanzhou, Gansu 730000, P.R. China.
Mol Med Rep. 2016 Mar;13(3):2635-8. doi: 10.3892/mmr.2016.4826. Epub 2016 Jan 29.
In the present study, an atypical case of chronic myeloid leukemia (CML) in a 32-year-old male was reported. CML cases with e13a3 breakpoint cluster region (BCR)-ABL transcripts are extremely rare. Reverse transcription quantitative‑polymerase chain reaction (RT-qPCR) was initially negative due to the primer corresponding to ABL a2 sequences and diagnosis was based upon analysis of the bone marrow smear, fluorescence in situ hybridization and karyotype analysis. RT‑qPCR analysis with the ABL primer, which was located in ABL exon 3 to enable the detection of fusions with either ABL a2 or exon a3 demonstrated the presence of the BCR‑ABL fusion transcript e13a3. The patient responded well to Nilotinib and achieved a complete cytogenetic response after 3 months.
在本研究中，报告了一例32岁男性慢性髓性白血病（CML）的非典型病例。具有e13a3断裂簇区域（BCR）-ABL转录本的CML病例极为罕见。由于对应于ABL a2序列的引物，逆转录定量聚合酶链反应（RT-qPCR）最初呈阴性，诊断基于骨髓涂片分析、荧光原位杂交和核型分析。使用位于ABL外显子3的ABL引物进行RT-qPCR分析，以检测与ABL a2或外显子a3的融合，结果显示存在BCR-ABL融合转录本e13a3。该患者对尼罗替尼反应良好，3个月后实现了完全细胞遗传学缓解。
