p210BCR/ABL1 as a secondary change in a patient with acute myelomonocytic leukemia (M4Eo) with inv(16)
p210BCR/ABL1 as a secondary change in a patient with acute myelomonocytic leukemia (M4Eo) with inv(16)
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DOI：
10.1007/s12185-012-1190-y
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发表时间：
2012-12-01
影响因子：
2.1
通讯作者：
Chen, Su-ning
中科院分区：
文献类型：
--
作者：
Dai, Hai-ping;Xue, Yong-quan;Chen, Su-ning
t（9;22）作为inv（16）的继发性改变是新发急性髓系白血病（AML）中罕见的染色体畸变。在这里，我们报告的情况下，一个31岁的男子与这种罕见的异常。核型分析显示了复杂的染色体畸变：46，XY，der（8）t（8;10）（p23;q25），der（10）t（8;10）t（10;16）（p13;q22），der（16）inv（16）（p13 q22）t（10;16）[4]和46，XY，idem，t（9;22）（q34;q11）[6]。荧光原位杂交检测CBFB和BCR/ABL 1重排。实时荧光定量RT-PCR检测CBFB/MYH 11（A型）和BCR/ABL 1（b3 a2）融合基因转录本。患者接受标准AML化疗和自体外周血干细胞移植治疗。他还在化疗期间和移植后接受伊马替尼（400 mg/天）。在第三次化疗开始时达到了分子缓解，他一直保持缓解状态，直到最后一次随访（诊断后22个月）。据我们所知，这是第一例报告的新发AML病例，其中p210（BCR/ABL 1）作为inv的继发性变化发生（16）。
t(9;22) as a secondary change of inv(16) is a rare chromosome aberration in de novo acute myeloid leukemia (AML). Here, we report the case of a 31-year-old man with this rare abnormality. Karyotypic analysis showed a complex chromosome aberration:46,XY,der(8)t(8;10)(p23;q25),der(10)t(8;10)t(10;16)(p13;q22),der(16)inv(16)(p13q22)t(10;16)[4] and 46,XY,idem,t(9;22)(q34;q11)[6]. Fluorescence in situ hybridization detected both the CBFB and the BCR/ABL1 rearrangements. CBFB/MYH11 (A type) and BCR/ABL1 (b3a2) fusion transcripts were both detected by real-time quantitative RT-PCR. The patient was treated with standard AML chemotherapy and autologous peripheral blood stem cell transplantation. He also received imatinib (400 mg/day) during the chemotherapy intervals and after transplantation. Molecular remission was achieved at the beginning of the third chemotherapy and he remained in remission until the last follow-up (22 months after diagnosis). To our knowledge, this is the first reported case of de novo AML in which has p210(BCR/ABL1) occurred as a secondary change of inv(16).