Key Laboratory of Thrombosis and Hemostasis, Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, 215006, People's Republic of China.
Int J Hematol. 2012 Dec;96(6):814-7. doi: 10.1007/s12185-012-1190-y. Epub 2012 Oct 11.
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).
t(9;22)作为 inv(16)的继发改变是一种罕见的初发急性髓系白血病（AML）染色体异常。在此，我们报告一例具有这种罕见异常的 31 岁男性病例。核型分析显示复杂的染色体异常：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]和 46,XY,idem,t(9;22)(q34;q11)[6]。荧光原位杂交检测到 CBFB 和 BCR/ABL1 重排。通过实时定量 RT-PCR 检测到 CBFB/MYH11（A 型）和 BCR/ABL1（b3a2）融合转录本。患者接受标准 AML 化疗和自体外周血造血干细胞移植治疗。在化疗间隔期间和移植后，他还接受伊马替尼（400mg/天）治疗。第三次化疗开始时达到分子缓解，在最后一次随访（诊断后 22 个月）时仍处于缓解状态。据我们所知，这是首例报告的初发 AML 中 p210(BCR/ABL1)作为 inv(16)的继发改变发生的病例。
